ClinVar Miner

List of variants in gene FH reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 32
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HGVS dbSNP
NM_000143.3(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.3(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.3(FH):c.1052C>G (p.Ser351Ter) rs1060500896
NM_000143.3(FH):c.1056dup (p.Leu353fs) rs863224016
NM_000143.3(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1236+1G>C rs1131691249
NM_000143.3(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.3(FH):c.1345_1348ATGA[3] (p.Ser452_Leu453insTer) rs863223990
NM_000143.3(FH):c.134del (p.Ala45fs) rs1131691237
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.1473_1474TC[1] (p.Leu492fs) rs886041201
NM_000143.3(FH):c.174_177dup (p.Leu60Ter) rs1131691246
NM_000143.3(FH):c.204T>A (p.Tyr68Ter) rs1060500883
NM_000143.3(FH):c.237dup (p.Lys80Ter) rs1553341945
NM_000143.3(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.3(FH):c.301C>T (p.Arg101Ter) rs121913120
NM_000143.3(FH):c.316del (p.Glu105_Val106insTer) rs876658569
NM_000143.3(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.3(FH):c.379-2A>G rs1131691240
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.556_557delAG rs1131691235
NM_000143.3(FH):c.563del (p.Asn188fs) rs1131691248
NM_000143.3(FH):c.689A>G (p.Lys230Arg) rs752232718
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.739G>T (p.Glu247Ter) rs1131691243
NM_000143.3(FH):c.757C>T (p.Gln253Ter) rs1131691239
NM_000143.3(FH):c.805del (p.Ile269fs) rs1131691234
NM_000143.3(FH):c.905-1G>A rs797044973

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