ClinVar Miner

List of variants in gene FH reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP
NC_000001.10:g.(?_241660857)_(241667545_?)del
NC_000001.10:g.(?_241660857)_(241683085_?)del
NC_000001.10:g.(?_241661118)_(241667555_?)del
NC_000001.10:g.(?_241661118)_(241672095_?)del
NC_000001.10:g.(?_241661118)_(241683032_?)del
NC_000001.10:g.(?_241669293)_(241669478_?)del
NC_000001.10:g.(?_241682885)_(241683028_?)del
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.3(FH):c.1028del (p.Arg343fs) rs1553341026
NM_000143.3(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.3(FH):c.1052C>A (p.Ser351Ter) rs1060500896
NM_000143.3(FH):c.1052C>G (p.Ser351Ter) rs1060500896
NM_000143.3(FH):c.1063G>T (p.Glu355Ter) rs1060499642
NM_000143.3(FH):c.1082del (p.Asn361fs) rs1553341012
NM_000143.3(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.3(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.3(FH):c.1097G>A (p.Ser366Asn) rs863224004
NM_000143.3(FH):c.1112del (p.Lys371fs) rs1060500904
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1138del (p.Ala379_Met380insTer) rs781466938
NM_000143.3(FH):c.1138dup (p.Met380fs) rs781466938
NM_000143.3(FH):c.1165_1174del (p.Gly389fs)
NM_000143.3(FH):c.1189G>A (p.Gly397Arg) rs863224007
NM_000143.3(FH):c.1205del (p.His402fs) rs1558397011
NM_000143.3(FH):c.120_130del (p.Ala41fs)
NM_000143.3(FH):c.1251dup (p.His418fs) rs1553340708
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.127C>T (p.Arg43Ter)
NM_000143.3(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.3(FH):c.1294_1336dup (p.Asn446fs) rs1553340686
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1327G>T (p.Glu443Ter)
NM_000143.3(FH):c.1328_1331dup (p.Ile445fs)
NM_000143.3(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.3(FH):c.1347del (p.Met449fs) rs1060500903
NM_000143.3(FH):c.1351G>T (p.Glu451Ter) rs1558396320
NM_000143.3(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.3(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.3(FH):c.1430_1437dup (p.Ser480fs) rs863223994
NM_000143.3(FH):c.1435G>T (p.Gly479Ter)
NM_000143.3(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.3(FH):c.1473_1474TC[1] (p.Leu492fs) rs886041201
NM_000143.3(FH):c.1479_1483AGCAG[1] (p.Glu495fs) rs1060500907
NM_000143.3(FH):c.174_177dup (p.Leu60Ter) rs1131691246
NM_000143.3(FH):c.175G>T (p.Glu59Ter)
NM_000143.3(FH):c.185_188dup (p.Asn64fs) rs1558402255
NM_000143.3(FH):c.201T>G (p.Tyr67Ter) rs1558402241
NM_000143.3(FH):c.204T>A (p.Tyr68Ter) rs1060500883
NM_000143.3(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.3(FH):c.267+1G>A rs878853691
NM_000143.3(FH):c.267+1G>C rs878853691
NM_000143.3(FH):c.301C>T (p.Arg101Ter) rs121913120
NM_000143.3(FH):c.301_319del (p.Arg101fs) rs1558401094
NM_000143.3(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.3(FH):c.344del (p.Lys115fs)
NM_000143.3(FH):c.353del (p.Asn118fs) rs1558401064
NM_000143.3(FH):c.379-1G>A rs1553341623
NM_000143.3(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.3(FH):c.418del (p.Val140fs)
NM_000143.3(FH):c.424C>T (p.Gln142Ter)
NM_000143.3(FH):c.442C>T (p.Gln148Ter) rs1558400571
NM_000143.3(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.553_554insTG (p.Gln185fs) rs768182640
NM_000143.3(FH):c.560C>A (p.Ser187Ter) rs398123166
NM_000143.3(FH):c.560C>G (p.Ser187Ter) rs398123166
NM_000143.3(FH):c.564_587delinsG (p.Asn188fs)
NM_000143.3(FH):c.568_569del (p.Thr190fs) rs1553341367
NM_000143.3(FH):c.5dup (p.Tyr2Ter)
NM_000143.3(FH):c.634C>T (p.Gln212Ter) rs1553341353
NM_000143.3(FH):c.65T>A (p.Leu22Ter)
NM_000143.3(FH):c.679C>T (p.Gln227Ter) rs11545658
NM_000143.3(FH):c.697C>T (p.Arg233Cys) rs587781682
NM_000143.3(FH):c.698G>A (p.Arg233His) rs121913123
NM_000143.3(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.3(FH):c.738+2T>C rs1060500901
NM_000143.3(FH):c.739G>T (p.Glu247Ter) rs1131691243
NM_000143.3(FH):c.760C>T (p.Gln254Ter) rs398123167
NM_000143.3(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.3(FH):c.905-1G>A rs797044973
NM_000143.3(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.3(FH):c.919del (p.Thr307fs) rs1553341049
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.3(FH):c.991dup (p.Thr331fs) rs1553341034
NM_000143.3(FH):c.999C>A (p.Cys333Ter) rs1553341031
Single allele

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