List of variants reported as pathogenic for porphyria by Mendelics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)	rs771824413	0.00001
NM_000097.7(CPOX):c.478C>T (p.Gln160Ter)	rs1576306536
NM_000140.5(FECH):c.598+1G>T	rs1598996309
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)	rs536814318
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter)	rs2134885779
NM_000374.5(UROD):c.904C>T (p.Gln302Ter)	rs1569967143
NM_000374.5(UROD):c.995G>A (p.Arg332His)	rs121918066

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