ClinVar Miner

List of variants reported as benign for X-linked sideroblastic anemia 1 by Illumina Laboratory Services, Illumina

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Total variants: 16
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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.282A>G (p.Glu94=) rs150313977 0.00780
NM_000032.5(ALAS2):c.824-15C>T rs727467 0.00627
NM_000032.5(ALAS2):c.*124C>T rs145843014 0.00387
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.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
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_017875.4(SLC25A38):c.*642del rs34288981

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