ClinVar Miner

List of variants studied for X-linked sideroblastic anemia 1

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000032.5(ALAS2):c.*56A>C rs6612250 0.05726
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01562
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251 0.01516
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_017875.4(SLC25A38):c.-292G>A rs142441701 0.01159
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) rs150313977 0.00780
NM_017875.4(SLC25A38):c.*809C>T rs71325527 0.00690
NC_000023.11:g.55031184G>C rs140772352 0.00656
NM_000032.5(ALAS2):c.824-15C>T rs727467 0.00627
NM_000032.5(ALAS2):c.*124C>T rs145843014 0.00387
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294 0.00385
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_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_017875.4(SLC25A38):c.*304C>T rs113251543 0.00262
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441 0.00163
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_017875.4(SLC25A38):c.*490G>A rs150889211 0.00096
NM_017875.4(SLC25A38):c.-237G>A rs527536267 0.00088
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388 0.00075
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345 0.00066
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) rs185504937 0.00052
NM_017875.4(SLC25A38):c.-225G>A rs370977005 0.00050
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139 0.00046
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567 0.00032
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) rs143995220 0.00030
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00029
NM_017875.4(SLC25A38):c.-69C>T rs886058470 0.00029
NM_000032.5(ALAS2):c.-34C>T rs780642606 0.00028
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078 0.00013
NM_017875.4(SLC25A38):c.-227G>A rs886058468 0.00009
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) rs753156183 0.00007
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287 0.00005
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln) rs372675935 0.00004
NM_000032.5(ALAS2):c.416-11T>C rs977637650 0.00004
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) rs201740830 0.00003
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753 0.00003
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe) rs1377796468 0.00002
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=) rs763266087 0.00002
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) rs754772558 0.00002
NM_000032.5(ALAS2):c.110G>A (p.Arg37His) rs756790340 0.00001
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) rs758646032 0.00001
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=) rs772107960 0.00001
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=) rs1602244633 0.00001
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
NM_017875.4(SLC25A38):c.-325G>C rs886058467 0.00001
NM_000032.5(ALAS2):c.-15-1829T>C rs2519597260
NM_000032.5(ALAS2):c.-15-2187T>C
NM_000032.5(ALAS2):c.-15-2188A>G rs2519597816
NM_000032.5(ALAS2):c.-16+6A>G rs1935989193
NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp) rs1935687757
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) rs765603040
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) rs1935671225
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) rs2146715075
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.224C>A (p.Ser75Ter) rs863223900
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000032.5(ALAS2):c.272_274dup (p.Glu91_Val92insGlu) rs2519592407
NM_000032.5(ALAS2):c.304+2T>A rs2519592343
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.5(ALAS2):c.488G>A (p.Arg163His) rs2146722839
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) rs1557248142
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.5(ALAS2):c.680G>A (p.Arg227His) rs866599436
NM_000032.5(ALAS2):c.741C>T (p.His247=) rs1057515971
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_017875.4(SLC25A38):c.-219T>C rs886058469

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