ClinVar Miner

Variants in gene FH with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.3(FH):c.*266A>G rs113667027 0.00037
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 0.00023
NM_000143.4(FH):c.1237-7C>T rs376260223 0.00022
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.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000143.4(FH):c.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000143.4(FH):c.*102T>C rs200093224 0.00009
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000143.4(FH):c.35G>T (p.Arg12Leu) rs367826177 0.00006
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000143.4(FH):c.-3A>G rs202145941 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.302G>A (p.Arg101Gln) rs75086406 0.00004
NM_000143.4(FH):c.305C>T (p.Ala102Val) rs61753295 0.00003
NM_000143.4(FH):c.40C>T (p.Leu14Phe) rs981562354 0.00003
NM_000143.4(FH):c.133-3T>C rs1553341989 0.00001
NM_000143.4(FH):c.1390+6T>A rs1338650106 0.00001
NM_000143.4(FH):c.1479A>G (p.Thr493=) rs755633330 0.00001
NM_000143.4(FH):c.219G>A (p.Val73=) rs1213056420 0.00001
NM_000143.4(FH):c.414C>T (p.Leu138=) rs540968725 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.1119C>T (p.Asn373=) rs542014575
NM_000143.4(FH):c.1237-50TC[15] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1390+5G>A rs1352808353
NM_000143.4(FH):c.186G>A (p.Val62=)
NM_000143.4(FH):c.240G>A (p.Lys80=) rs1573888362
NM_000143.4(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.4(FH):c.576C>G (p.Pro192=) rs1413797947
NM_000143.4(FH):c.739-17TTTTC[2] rs745617145

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