ClinVar Miner

List of variants in gene FH studied for not specified

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Gene type:
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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1237-13C>T rs752468689 0.07865
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.927G>A (p.Pro309=) rs61737760 0.02428
NM_000143.4(FH):c.268-22A>T rs2275162 0.02420
NM_000143.4(FH):c.904+47G>A rs145209119 0.01502
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.905-39A>G rs200809528 0.00139
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.556-28T>C rs199773673 0.00099
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.1391-40C>G rs200343739 0.00025
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.1237-12A>T rs74405673 0.00019
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.379-49G>A rs201168370 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.-10C>T rs998842505 0.00006
NM_000143.4(FH):c.399T>C (p.Asn133=) rs376056309 0.00005
NM_000143.4(FH):c.738+19T>C rs200220212 0.00005
NM_000143.4(FH):c.-3A>G rs202145941 0.00004
NM_000143.4(FH):c.1482A>G (p.Ala494=) rs201559643 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.1138A>G (p.Met380Val) rs587778362 0.00002
NM_000143.4(FH):c.1428C>T (p.His476=) rs199887605 0.00002
NM_000143.4(FH):c.270C>T (p.Thr90=) rs748852152 0.00002
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.*36A>G rs778697601 0.00001
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.1237-9C>T rs767413280 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.178C>T (p.Leu60=) rs201146499 0.00001
NM_000143.4(FH):c.555+17T>C rs201109559 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.816C>T (p.Leu272=) rs775368701 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.*14A>G
NM_000143.4(FH):c.*2T>C
NM_000143.4(FH):c.-17C>T rs202081538
NM_000143.4(FH):c.-31C>T
NM_000143.4(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.4(FH):c.106T>G (p.Phe36Val) rs2147926878
NM_000143.4(FH):c.1098T>C (p.Ser366=) rs2147916028
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.1237-12_1237-11del
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000143.4(FH):c.1237-16T>A
NM_000143.4(FH):c.1237-50TC[14]
NM_000143.4(FH):c.1237-50TC[15] rs144131869
NM_000143.4(FH):c.1237-50TC[16] rs144131869
NM_000143.4(FH):c.1237-50TC[17] rs144131869
NM_000143.4(FH):c.1237-50TC[18] 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.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1237-50TC[25] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000143.4(FH):c.1237-50TC[27] rs144131869
NM_000143.4(FH):c.1237-50TC[28] rs144131869
NM_000143.4(FH):c.1237-50TC[29] rs144131869
NM_000143.4(FH):c.1305G>A (p.Val435=) rs772415507
NM_000143.4(FH):c.132+35A>G rs1660315752
NM_000143.4(FH):c.1326A>G (p.Thr442=) rs2147913140
NM_000143.4(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.4(FH):c.1390+17T>C
NM_000143.4(FH):c.1390+50C>T
NM_000143.4(FH):c.1391-18T>G
NM_000143.4(FH):c.1391-19C>G
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.151C>A (p.Arg51=) rs778678782
NM_000143.4(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.4(FH):c.168C>T (p.Thr56=) rs574938106
NM_000143.4(FH):c.186G>A (p.Val62=)
NM_000143.4(FH):c.216C>T (p.Thr72=) rs1341995835
NM_000143.4(FH):c.267+10A>G
NM_000143.4(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.4(FH):c.273A>G (p.Pro91=)
NM_000143.4(FH):c.37C>G (p.Pro13Ala) rs587778360
NM_000143.4(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.4(FH):c.555+22dup rs569920379
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.705T>C (p.His235=) rs919993170
NM_000143.4(FH):c.71C>G (p.Ser24Trp) rs587778361
NM_000143.4(FH):c.722C>T (p.Pro241Leu) rs1553341319
NM_000143.4(FH):c.739-13_739-11del rs771766378
NM_000143.4(FH):c.894_896del (p.Ala299del) rs863223986
NM_000143.4(FH):c.904+21T>A
NM_000143.4(FH):c.92C>T (p.Ala31Val) rs876659347
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200

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