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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)	rs121912980	0.00005
NM_000374.5(UROD):c.138T>A (p.Phe46Leu)	rs769378741	0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)	rs771824413	0.00001
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)	rs536814318
NM_000190.4(HMBS):c.826-2A>T	rs1946317952
NM_000374.5(UROD):c.758dup (p.Ala254fs)

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