ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_000140.4(FECH):c.1001C>T (p.Pro334Leu) rs150146721
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000140.4(FECH):c.854A>G (p.Gln285Arg) rs370708663
NM_000140.4(FECH):c.913G>T (p.Val305Phe) rs765518889
NM_000140.5(FECH):c.365del (p.Gln122fs) rs1599003455
NM_000140.5(FECH):c.599-3C>T rs765069812

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