ClinVar Miner

List of variants studied for X-linked sideroblastic anemia 1

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_000032.4(ALAS2):c.-258C>G rs140772352
NM_000032.4(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.4(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.4(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.4(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.4(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.4(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.4(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.4(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.4(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.4(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.4(ALAS2):c.508C>A (p.Arg170Ser) rs1557248142
NM_000032.4(ALAS2):c.514G>A (p.Ala172Thr) rs137852304
NM_000032.4(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.4(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.4(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_000032.4(ALAS2):c.895A>C (p.Lys299Gln) rs137852303
NM_017875.3(SLC25A38):c.*642delT rs34288981
NM_017875.4(SLC25A38):c.*304C>T rs113251543
NM_017875.4(SLC25A38):c.*310A>T rs12991
NM_017875.4(SLC25A38):c.*370C>T rs886058472
NM_017875.4(SLC25A38):c.*404G>A rs886058473
NM_017875.4(SLC25A38):c.*431G>A rs73058292
NM_017875.4(SLC25A38):c.*472G>T rs141567816
NM_017875.4(SLC25A38):c.*490G>A rs150889211
NM_017875.4(SLC25A38):c.*588T>A rs6890
NM_017875.4(SLC25A38):c.*809C>T rs71325527
NM_017875.4(SLC25A38):c.-161G>A rs528990278
NM_017875.4(SLC25A38):c.-209A>G rs143903497
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-225G>A rs370977005
NM_017875.4(SLC25A38):c.-227G>A rs886058468
NM_017875.4(SLC25A38):c.-237G>A rs527536267
NM_017875.4(SLC25A38):c.-292G>A rs142441701
NM_017875.4(SLC25A38):c.-303A>C rs114422738
NM_017875.4(SLC25A38):c.-325G>C rs886058467
NM_017875.4(SLC25A38):c.-69C>T rs886058470
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735

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