ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
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
NC_000012.12:g.32744503T>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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.