ClinVar Miner

List of variants in gene FECH reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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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.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.854A>G (p.Gln285Arg) rs370708663 0.00001
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
NM_000140.5(FECH):c.1077+1G>A rs786205245
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+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.194+11A>G rs786205247
NM_000140.5(FECH):c.286C>T (p.Arg96Ter) rs984041251
NM_000140.5(FECH):c.314+6A>C rs786205246
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.901_902del (p.Trp301fs) rs1430926156

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