ClinVar Miner

List of variants in gene FH reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000143.3(FH):c.1061G>A (p.Gly354Glu) rs1057523184
NM_000143.3(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.3(FH):c.1229C>T (p.Pro410Leu) rs1057517735
NM_000143.3(FH):c.1237-7C>T rs376260223
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.3(FH):c.194A>G (p.Asp65Gly) rs145116688
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.3(FH):c.403C>T (p.His135Tyr) rs1553341617
NM_000143.3(FH):c.418G>C (p.Val140Leu) rs746195750
NM_000143.3(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.3(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.3(FH):c.668A>C (p.Lys223Thr) rs1064795294
NM_000143.3(FH):c.7C>G (p.Arg3Gly) rs202166344
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.3(FH):c.894_896del (p.Ala299del) rs863223986
NM_000143.3(FH):c.907T>G (p.Leu303Val) rs1057523697

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