ClinVar Miner

List of variants reported as benign for inherited sideroblastic anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_017875.4(SLC25A38):c.*310A>T rs12991 0.26507
NM_012062.5(DNM1L):c.*1093T>C rs1971910 0.22300
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_025215.6(PUS1):c.-182C>T rs61942438 0.12527
NM_000032.5(ALAS2):c.*56A>C rs6612250 0.06184
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01690
NM_025215.6(PUS1):c.*16C>T rs116003934 0.01667
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251 0.01631
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_017875.4(SLC25A38):c.-209A>G rs143903497 0.01332
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_025215.6(PUS1):c.*208T>C rs148927836 0.00929
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) rs150313977 0.00815
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_025215.6(PUS1):c.*253G>C rs59879353 0.00343
NM_025215.6(PUS1):c.345C>T (p.Asp115=) rs145798848 0.00332
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_025215.6(PUS1):c.22C>T (p.Leu8=) rs139227671 0.00222
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) rs201940521 0.00157
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388 0.00077
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287 0.00005
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
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
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_017875.4(SLC25A38):c.*212T>G rs72867427
NM_017875.4(SLC25A38):c.*642del rs34288981

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