ClinVar Miner

List of variants reported as likely pathogenic for Erythropoietic protoporphyria

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Total variants: 3
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HGVS dbSNP
NM_000140.4(FECH):c.1001C>T (p.Pro334Leu) rs150146721
NM_000140.4(FECH):c.854A>G (p.Gln285Arg) rs370708663
NM_000140.4(FECH):c.913G>T (p.Val305Phe) rs765518889

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