ClinVar Miner

List of variants in gene FH reported as uncertain significance for not specified

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000143.4(FH):c.1303G>A (p.Val435Met) rs147528200 0.00021
NM_000143.4(FH):c.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000143.4(FH):c.-3A>G rs202145941 0.00004
NM_000143.4(FH):c.302G>A (p.Arg101Gln) rs75086406 0.00004
NM_000143.4(FH):c.556-4A>G rs370229813 0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) rs201115573 0.00003
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.664T>A (p.Ser222Thr) rs1448268784 0.00002
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.104C>T (p.Ser35Leu) rs942065027 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000143.4(FH):c.655G>A (p.Asp219Asn) rs11545656 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.106T>G (p.Phe36Val) rs2147926878
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
NM_000143.4(FH):c.1224C>A (p.Phe408Leu)
NM_000143.4(FH):c.1229C>T (p.Pro410Leu) rs1057517735
NM_000143.4(FH):c.1237-50TC[15] rs144131869
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1495G>A (p.Glu499Lys) rs750838853
NM_000143.4(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.4(FH):c.186G>A (p.Val62=)
NM_000143.4(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.4(FH):c.555+4A>G rs776240700
NM_000143.4(FH):c.62C>T (p.Ala21Val) rs1131691251
NM_000143.4(FH):c.665C>T (p.Ser222Phe) rs745606057
NM_000143.4(FH):c.722C>T (p.Pro241Leu) rs1553341319
NM_000143.4(FH):c.894_896del (p.Ala299del) rs863223986
NM_000143.4(FH):c.92C>T (p.Ala31Val) rs876659347
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200

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