List of variants in gene ALAS2 reported as benign 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000032.5(ALAS2):c.*56A>C	rs6612250	0.05726
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=)	rs6612251	0.01516
NM_000032.5(ALAS2):c.824-15C>T	rs727467	0.00627
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)	rs150055592	0.00362
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=)	rs150494562	0.00357
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=)	rs140584437	0.00356
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)	rs201062903	0.00124
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln)	rs141305388	0.00075
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=)	rs368764287	0.00005
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=)	rs201740830	0.00003
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg)	rs758646032	0.00001
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys)	rs760790600
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)	rs199826743

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