ClinVar Miner

List of variants in gene ANK1 reported as pathogenic for anemia (disease)

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001142446.2(ANK1):c.1618dup (p.Leu540fs) rs397514029
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.5128G>T (p.Glu1710Ter) rs137852829
NM_001142446.2(ANK1):c.5275C>T (p.Gln1759Ter) rs1554522035
NM_001142446.2(ANK1):c.5286G>A (p.Trp1762Ter) rs137852830
NM_001142446.2(ANK1):c.5620C>T (p.Arg1874Ter) rs137852831
NM_001142446.2(ANK1):c.633del (p.His211fs) rs1554578304

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