ClinVar Miner

List of variants in gene HCFC1 reported as pathogenic

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Total variants: 7
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NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) rs797044886
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758

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