List of variants in gene ALAS2 studied for hepatic porphyria

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)	rs139596860	0.00189
NM_000032.5(ALAS2):c.1057C>G (p.Leu353Val)	rs1557247532
NM_000032.5(ALAS2):c.1168+19C>A
NM_000032.5(ALAS2):c.1178T>C (p.Phe393Ser)
NM_000032.5(ALAS2):c.1532G>T (p.Arg511Leu)
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter)	rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs)	rs879255567
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)	rs387906473
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)	rs387906472

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