List of variants in gene ALAS2 reported as likely pathogenic for X-linked sideroblastic anemia 1

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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.514G>A (p.Ala172Thr)	rs137852304	0.00001
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)	rs1935671225
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)	rs2146715075
NM_000032.5(ALAS2):c.680G>A (p.Arg227His)	rs866599436

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