ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000032.5(ALAS2):c.*56A>C rs6612250 0.06184
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251 0.01631
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 0.00077
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 0.00002
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743

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