List of variants reported as uncertain significance for hepatic porphyria by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser)	rs746707121	0.00004
NM_000032.5(ALAS2):c.1057C>G (p.Leu353Val)	rs1557247532
NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del)
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)	rs536814318
NM_000190.4(HMBS):c.88-27_88-12del
NM_000374.5(UROD):c.968A>G (p.Gln323Arg)
NM_001122764.3(PPOX):c.1345G>A (p.Ala449Thr)

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