Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 49379 deletion NM_007074.3(CORO1A):c.248_249delCT (p.Pro83Argfs) 606231246 MedGen:C3809383,OMIM:615401,Orphanet:ORPHA228003 16 30186647 30186648 CT - 49379 deletion NM_007074.3(CORO1A):c.248_249delCT (p.Pro83Argfs) 606231246 MedGen:C3809383,OMIM:615401,Orphanet:ORPHA228003 16 30197968 30197969 CT - 75599 single nucleotide variant NM_001193333.2(CORO1A):c.400G>A (p.Val134Met) 397514755 MedGen:C3809383,OMIM:615401,Orphanet:ORPHA228003 16 30198215 30198215 G A 75599 single nucleotide variant NM_001193333.2(CORO1A):c.400G>A (p.Val134Met) 397514755 MedGen:C3809383,OMIM:615401,Orphanet:ORPHA228003 16 30186894 30186894 G A 167370 deletion NM_007074.3(CORO1A):c.1078delC (p.Gln360Argfs) 606231256 MedGen:C3809383,OMIM:615401,Orphanet:ORPHA228003 16 30188373 30188373 C - 167370 deletion NM_007074.3(CORO1A):c.1078delC (p.Gln360Argfs) 606231256 MedGen:C3809383,OMIM:615401,Orphanet:ORPHA228003 16 30199694 30199694 C -

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000102879.15 CORO1A 605000