ClinVar Miner

List of variants studied for anemia (disease) by Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_000064.4(C3):c.1921G>A (p.Asp641Asn) rs1348311492
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg) rs1555596165
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) rs1555596072
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.486-2A>G rs1555596757
NM_000342.4(SLC4A1):c.695-3C>A rs772264078
NM_001142446.2(ANK1):c.127-39401A>G rs1554627073
NM_001142446.2(ANK1):c.1801-2A>C rs1554567249
NM_001142446.2(ANK1):c.1900-17G>A rs786205243
NM_001142446.2(ANK1):c.4585C>T (p.Arg1529Ter) rs777701149
NM_001142446.2(ANK1):c.5275C>T (p.Gln1759Ter) rs1554522035
NM_001142446.2(ANK1):c.5620C>T (p.Arg1874Ter) rs137852831
NM_001142446.2(ANK1):c.633del (p.His211fs) rs1554578304
NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala) rs1474972037
NM_001308147.2(PLEKHG3):c.*6317G>A rs1555364743
NM_001308147.2(PLEKHG3):c.*6348G>T rs1555364746
NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs) rs1555370967
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter) rs1555367359
NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr) rs372733273
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_002389.4(CD46):c.402T>G (p.Ile134Met) rs1553250568
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588
NM_003126.4(SPTA1):c.2898G>A (p.Gln966=) rs1553232007
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) rs1553231217
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6600+5G>T rs1462060431
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_022437.3(ABCG8):c.-27G>A rs779984848

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