ClinVar Miner

List of variants in gene KCNN4 studied for anemia

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002250.3(KCNN4):c.820-2dup rs574008067 0.00332
NM_002250.3(KCNN4):c.1007C>T (p.Ala336Val) rs141341073 0.00001
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)
NM_002250.3(KCNN4):c.1272G>T (p.Gln424His)
NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro)
NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser)
NM_002250.3(KCNN4):c.340G>T (p.Val114Leu)
NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile)
NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys)
NM_002250.3(KCNN4):c.43C>G (p.Arg15Gly)
NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg)
NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer)
NM_002250.3(KCNN4):c.766G>A (p.Val256Met)
NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser)
NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln)
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu)
NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)
NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro) rs1969582489
NM_002250.3(KCNN4):c.970A>G (p.Met324Val)

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