ClinVar Miner

List of variants in gene FH reported as benign

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1108+98C>A rs4659607 0.73671
NM_000143.4(FH):c.738+265G>A rs11802956 0.40494
NM_000143.4(FH):c.378+145G>A rs10926500 0.40329
NM_000143.4(FH):c.1236+233T>C rs2185626 0.37539
NM_000143.4(FH):c.555+148C>G rs6673988 0.34066
NM_000143.4(FH):c.1108+109G>A rs4660099 0.27390
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_000143.4(FH):c.1390+261T>C rs4660098 0.02455
NM_000143.4(FH):c.904+54G>A rs12065955 0.02443
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_000143.4(FH):c.268-22A>T rs2275162 0.02420
NM_000143.4(FH):c.1390+276G>A rs75440584 0.02130
NM_000143.4(FH):c.*221_*222del rs112946286 0.01684
NM_000143.4(FH):c.904+47G>A rs145209119 0.01502
NM_000143.4(FH):c.267+235C>T rs143551540 0.01112
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000143.4(FH):c.1237-18T>A rs202206776 0.00128
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000143.4(FH):c.1299C>T (p.Asn433=) rs201994824 0.00047
NM_000143.4(FH):c.306G>A (p.Ala102=) rs142283468 0.00032
NM_000143.4(FH):c.1237-7C>T rs376260223 0.00022
NM_000143.4(FH):c.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000143.4(FH):c.739-10T>C rs201971572 0.00013
NM_000143.4(FH):c.379-15A>T rs374529177 0.00012
NM_000143.4(FH):c.6C>T (p.Tyr2=) rs199971078 0.00011
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000143.4(FH):c.1077T>A (p.Pro359=) rs750535216 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.1482A>G (p.Ala494=) rs201559643 0.00004
NM_000143.4(FH):c.738+14A>G rs765629644 0.00003
NM_000143.4(FH):c.270C>T (p.Thr90=) rs748852152 0.00002
NM_000143.4(FH):c.702T>G (p.Thr234=) rs201083387 0.00002
NM_000143.4(FH):c.655G>A (p.Asp219Asn) rs11545656 0.00001
NC_000001.11:g.241497346CA[7] rs34516025
NM_000143.3(FH):c.-57C>G rs201589544
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
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.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000143.4(FH):c.1391-14del
NM_000143.4(FH):c.268-15del rs1343862298
NM_000143.4(FH):c.268-3del
NM_000143.4(FH):c.379-17dup rs1205896768
NM_000143.4(FH):c.379-7dup rs761444069
NM_000143.4(FH):c.555+22dup rs569920379
NM_000143.4(FH):c.739-14del
NM_000143.4(FH):c.905-12del

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