ClinVar Miner

List of variants in gene combination KCNK4, KCNK4-CATSPERZ reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_033310.3(KCNK4):c.492G>A (p.Pro164=) rs2232415 0.00853
NM_033310.3(KCNK4):c.24C>T (p.Ala8=) rs76192175 0.00391
NM_033310.3(KCNK4):c.1094C>T (p.Pro365Leu) rs201234773 0.00242
NM_033310.3(KCNK4):c.1137G>T (p.Arg379=) rs775562817 0.00025
NM_033310.3(KCNK4):c.684C>A (p.Ser228=) rs144212286 0.00025
NM_033310.3(KCNK4):c.1080G>C (p.Pro360=) rs756537203 0.00007
NM_033310.3(KCNK4):c.414C>T (p.Val138=) rs199730514 0.00007
NM_033310.3(KCNK4):c.738C>T (p.Phe246=) rs145581707 0.00007
NM_033310.3(KCNK4):c.1150G>A (p.Gly384Arg) rs572055265
NM_033310.3(KCNK4):c.128G>T (p.Arg43Leu) rs150371580
NM_033310.3(KCNK4):c.33G>A (p.Ala11=) rs1268012842
NM_033310.3(KCNK4):c.663C>G (p.Gly221=) rs748147206
NM_033310.3(KCNK4):c.927T>C (p.Cys309=) rs2495702046

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