ClinVar Miner

List of variants in gene FECH reported as pathogenic

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_000140.5(FECH):c.820G>A (p.Asp274Asn) rs146269992 0.00007
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu) rs150146721 0.00006
NM_000140.5(FECH):c.1231T>G (p.Cys411Gly) rs146899669 0.00003
NM_000140.5(FECH):c.314+2T>G rs149067146 0.00003
NM_000140.3(FECH):c.1078_1137del rs879255507 0.00001
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr) rs1324421474 0.00001
NM_000140.5(FECH):c.599-2A>G rs980047540 0.00001
NM_000140.5(FECH):c.854A>G (p.Gln285Arg) rs370708663 0.00001
NC_000018.9:g.(?_55217944)_(55230232_?)del
NC_000018.9:g.(?_55222057)_(55225777_?)del
NC_000018.9:g.(?_55225777)_(55226495_?)del
NC_000018.9:g.(?_55233659)_(55240617_?)del
NC_000018.9:g.(?_55238604)_(55240617_?)del
NC_000018.9:g.(?_55253766)_(55254103_?)del
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
NM_000140.5(FECH):c.1025_1026del (p.Ile342fs)
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
NM_000140.5(FECH):c.1077+1G>A rs786205245
NM_000140.5(FECH):c.1077+1del
NM_000140.5(FECH):c.1077G>A (p.Glu359=)
NM_000140.5(FECH):c.1078-1G>A
NM_000140.5(FECH):c.1085T>G (p.Val362Gly) rs118204040
NM_000140.5(FECH):c.1136del (p.Lys379fs) rs764466739
NM_000140.5(FECH):c.1137+2T>G
NM_000140.5(FECH):c.1137+3A>G rs202147607
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser) rs118204039
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.5(FECH):c.175C>T (p.Gln59Ter) rs2051253130
NM_000140.5(FECH):c.194+11A>G rs786205247
NM_000140.5(FECH):c.215dup (p.Leu72fs)
NM_000140.5(FECH):c.253dup (p.Val85fs) rs2122329859
NM_000140.5(FECH):c.286C>T (p.Arg96Ter) rs984041251
NM_000140.5(FECH):c.314+6A>C rs786205246
NM_000140.5(FECH):c.343C>T (p.Arg115Ter)
NM_000140.5(FECH):c.463+1G>C rs1206108637
NM_000140.5(FECH):c.553G>A (p.Ala185Thr) rs397514476
NM_000140.5(FECH):c.580_584del (p.Tyr194fs) rs786205248
NM_000140.5(FECH):c.598+1G>T rs1598996309
NM_000140.5(FECH):c.599-2A>C
NM_000140.5(FECH):c.621C>A (p.Tyr207Ter)
NM_000140.5(FECH):c.627C>A (p.Tyr209Ter) rs2122284871
NM_000140.5(FECH):c.680G>A (p.Trp227Ter) rs2122284554
NM_000140.5(FECH):c.843del (p.Ser281fs) rs2122250926
NM_000140.5(FECH):c.892C>T (p.Arg298Ter)
NM_000140.5(FECH):c.901_902del (p.Trp301fs) rs1430926156
NM_000140.5(FECH):c.930G>A (p.Trp310Ter)
NM_000140.5(FECH):c.945del (p.Asp316fs) rs2122248224
NM_000140.5(FECH):c.954dup (p.Ile319fs)
NM_000140.5(FECH):c.963del (p.Leu322fs)

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