ClinVar Miner

List of variants in gene OFD1 reported as pathogenic by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) rs312262895
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.312+1del rs312262822
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.935+706A>G rs730880283

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