List of variants reported as pathogenic for porphyria by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)	rs121908012	0.00022
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)	rs118204101	0.00004
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)	rs575222284	0.00001
NM_000140.5(FECH):c.286C>T (p.Arg96Ter)	rs984041251

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