ClinVar Miner

List of variants reported as pathogenic 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: 13
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HGVS dbSNP
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) rs1555596072
NM_000342.4(SLC4A1):c.486-2A>G rs1555596757
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_001355436.2(SPTB):c.1331_1338del (p.Leu444fs) rs1555370967
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter) rs1555367359
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) rs1553231217

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