ClinVar Miner

List of variants reported as not provided for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NG_000006.1:g.34164_37967del3804
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter) rs796064505
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000489.5(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000518.4(HBB):c.-80del rs397509430
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) rs561240556
NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) rs537292240
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser) rs121912287
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe) rs121912306
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_005142.2(CBLIF):c.-376A>T rs796064509
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter) rs796064508
NM_005142.3(CBLIF):c.432_434GAA[1] (p.Lys145del) rs770530971
NM_014646.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807
NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442
NM_014646.2(LPIN2):c.2327+1G>C rs80338808
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_014646.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.915G>A (p.Ala305=) rs2736098
NM_203342.2(EPB41):c.1378G>C (p.Ala460Pro)

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