| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 17288 | deletion | NM_000265.5(NCF1):c.75_76delGT (p.Tyr26Hisfs) | 273585651 | MedGen:C1856251,OMIM:233700 | 7 | 74191615 | 74191616 | GT | - |
| 17288 | deletion | NM_000265.5(NCF1):c.75_76delGT (p.Tyr26Hisfs) | 273585651 | MedGen:C1856251,OMIM:233700 | 7 | 74777269 | 74777270 | GT | - |
| 17289 | deletion | NCF1, 1-BP DEL, 502G | -1 | MedGen:C1856251,OMIM:233700 | na | -1 | -1 | na | na |
| 17290 | single nucleotide variant | NM_000265.5(NCF1):c.125G>A (p.Arg42Gln) | 119103270 | MedGen:C1856251,OMIM:233700 | 7 | 74191665 | 74191665 | G | A |
| 17290 | single nucleotide variant | NM_000265.5(NCF1):c.125G>A (p.Arg42Gln) | 119103270 | MedGen:C1856251,OMIM:233700 | 7 | 74777319 | 74777319 | G | A |
| 17291 | deletion | NCF1, 1-BP DEL, NT811 | -1 | MedGen:C1856251,OMIM:233700 | na | -1 | -1 | na | na |
| 17292 | single nucleotide variant | NM_000265.5(NCF1):c.271C>T (p.Gln91Ter) | 119103271 | MedGen:C1856251,OMIM:233700 | 7 | 74193644 | 74193644 | C | T |
| 17292 | single nucleotide variant | NM_000265.5(NCF1):c.271C>T (p.Gln91Ter) | 119103271 | MedGen:C1856251,OMIM:233700 | 7 | 74779298 | 74779298 | C | T |
| 17293 | single nucleotide variant | NM_000265.5(NCF1):c.333T>A (p.Cys111Ter) | 119103272 | MedGen:C1856251,OMIM:233700 | 7 | 74193706 | 74193706 | T | A |
| 17293 | single nucleotide variant | NM_000265.5(NCF1):c.333T>A (p.Cys111Ter) | 119103272 | MedGen:C1856251,OMIM:233700 | 7 | 74779360 | 74779360 | T | A |
| 17294 | single nucleotide variant | NM_000265.5(NCF1):c.574G>A (p.Gly192Ser) | 119103273 | MedGen:C1856251,OMIM:233700 | 7 | 74197404 | 74197404 | G | A |
| 17294 | single nucleotide variant | NM_000265.5(NCF1):c.574G>A (p.Gly192Ser) | 119103273 | MedGen:C1856251,OMIM:233700 | 7 | 74783061 | 74783061 | G | A |
| 264338 | duplication | NM_000265.5(NCF1):c.186dupA (p.Gly63Argfs) | 886041799 | MedGen:CN221809 | 7 | 74193460 | 74193460 | A | AA |
| 264338 | duplication | NM_000265.5(NCF1):c.186dupA (p.Gly63Argfs) | 886041799 | MedGen:CN221809 | 7 | 74779114 | 74779114 | A | AA |