ClinVar Miner

List of variants in gene ANK1, LOC126860368 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667 0.02104
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg) rs141408004 0.00043
NM_000037.4(ANK1):c.4472G>A (p.Arg1491His) rs372878614 0.00004
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000037.4(ANK1):c.4391-18T>C
NM_000037.4(ANK1):c.4391-1G>C
NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter) rs1228535558
NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)
NM_000037.4(ANK1):c.4444A>G (p.Met1482Val) rs2150578454
NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter) rs1187228917
NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)
NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)
NM_000037.4(ANK1):c.4497C>T (p.His1499=) rs370037242
NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)
NM_000037.4(ANK1):c.4524C>T (p.Pro1508=) rs886062938
NM_000037.4(ANK1):c.4529del (p.Gln1510fs)

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