List of variants in gene ALAS2 reported as pathogenic for porphyria

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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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