ClinVar Miner

List of variants reported as likely pathogenic for Protoporphyria, erythropoietic, 1 by Genomics England Pilot Project, Genomics England

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_000140.5(FECH):c.181C>T (p.Gln61Ter)	rs2122357230

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