ClinVar Miner

List of variants in gene FECH reported as pathogenic for Protoporphyria, erythropoietic, 1

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Total variants: 18
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NM_000140.3(FECH):c.1078_1137del rs879255507
NM_000140.4(FECH):c.1077+1G>A rs786205245
NM_000140.4(FECH):c.1085T>G (p.Val362Gly) rs118204040
NM_000140.4(FECH):c.1136del (p.Lys379fs) rs764466739
NM_000140.4(FECH):c.1137+3A>G rs202147607
NM_000140.4(FECH):c.1250T>C (p.Phe417Ser) rs118204039
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.194+11A>G rs786205247
NM_000140.4(FECH):c.314+2T>G rs149067146
NM_000140.4(FECH):c.314+6A>C rs786205246
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000140.4(FECH):c.553G>A (p.Ala185Thr) rs397514476
NM_000140.4(FECH):c.580_584del (p.Tyr194fs) rs786205248
NM_000140.4(FECH):c.801G>A (p.Met267Ile) rs118204037
NM_000140.4(FECH):c.820G>A (p.Asp274Asn) rs146269992
NM_000140.5(FECH):c.598+1G>T rs1598996309
NM_001012515.3(FECH):c.68-23C>T rs2269219

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