List of variants studied for hepatic porphyria by GeneReviews

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		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)	rs139596860	0.00189
NM_000374.5(UROD):c.636+1G>C	rs145195562	0.00003
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)	rs387906473
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)	rs387906472
NM_000374.5(UROD):c.578G>C (p.Arg193Pro)	rs143823335
NM_000374.5(UROD):c.842G>A (p.Gly281Glu)	rs121918057
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	rs121918324

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