ClinVar Miner

List of variants in gene FH reported as pathogenic by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
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.1041del (p.Gly348fs) rs1060499641
NM_000143.3(FH):c.1063G>T (p.Glu355Ter) rs1060499642
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.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.3(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.3(FH):c.1138dup (p.Met380fs) rs781466938
NM_000143.3(FH):c.1189G>A (p.Gly397Arg) rs863224007
NM_000143.3(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.3(FH):c.1298_1340dup (p.Met449fs) rs1553340681
NM_000143.3(FH):c.133-1G>A rs863224011
NM_000143.3(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.157G>T (p.Glu53Ter) rs863224013
NM_000143.3(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.3(FH):c.267+1G>C rs878853691
NM_000143.3(FH):c.267+1_267+10del rs1060499629
NM_000143.3(FH):c.301C>T (p.Arg101Ter) rs121913120
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.390_394TAAAT[1] (p.Lys131_Leu132insTer) rs863223995
NM_000143.3(FH):c.395del (p.Lys131_Leu132insTer) rs1060499631
NM_000143.3(FH):c.439dup (p.Thr147fs) rs1060499633
NM_000143.3(FH):c.524del (p.Val175fs) rs1060499634
NM_000143.3(FH):c.553_554insTG (p.Gln185fs) rs768182640
NM_000143.3(FH):c.556-2A>T rs750273092
NM_000143.3(FH):c.560C>G (p.Ser187Ter) rs398123166
NM_000143.3(FH):c.698G>A (p.Arg233His) rs121913123
NM_000143.3(FH):c.722_738+3del rs1064792900
NM_000143.3(FH):c.808del (p.Tyr270fs) rs1060499637
NM_000143.3(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168

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