ClinVar Miner

List of variants in gene combination KCNK4, KCNK4-CATSPERZ reported by Ambry Genetics

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_033310.3(KCNK4):c.93C>A (p.His31Gln) rs202162247 0.00026
NM_033310.3(KCNK4):c.236C>T (p.Ser79Leu) rs137935680 0.00016
NM_033310.3(KCNK4):c.437T>C (p.Leu146Pro) rs764383329 0.00014
NM_033310.3(KCNK4):c.778G>A (p.Val260Met) rs200022673 0.00011
NM_033310.3(KCNK4):c.637G>A (p.Val213Met) rs200599852 0.00009
NM_033310.3(KCNK4):c.938C>T (p.Pro313Leu) rs761408425 0.00004
NM_033310.3(KCNK4):c.439C>T (p.Arg147Cys) rs757444887 0.00003
NM_033310.3(KCNK4):c.1078C>T (p.Pro360Ser) rs781769954 0.00002
NM_033310.3(KCNK4):c.557C>T (p.Thr186Met) rs761615611 0.00002
NM_033310.3(KCNK4):c.112G>C (p.Glu38Gln) rs1379919229 0.00001
NM_033310.3(KCNK4):c.140T>C (p.Leu47Pro) rs1017472172 0.00001
NM_033310.3(KCNK4):c.277G>A (p.Ala93Thr) rs760963075 0.00001
NM_033310.3(KCNK4):c.335G>A (p.Arg112His) rs766304450 0.00001
NM_033310.3(KCNK4):c.400C>A (p.Leu134Ile) rs369372525 0.00001
NM_033310.3(KCNK4):c.607A>G (p.Ile203Val) rs558208878 0.00001
NM_033310.3(KCNK4):c.730G>A (p.Ala244Thr) rs1189909394 0.00001
NM_033310.3(KCNK4):c.788G>A (p.Arg263His) rs376878565 0.00001
NM_033310.3(KCNK4):c.794G>A (p.Arg265Gln) rs1049128278 0.00001
NM_033310.3(KCNK4):c.926G>A (p.Cys309Tyr) rs768358494 0.00001
NM_033310.3(KCNK4):c.992C>T (p.Pro331Leu) rs768144352 0.00001
NM_033310.3(KCNK4):c.1054G>T (p.Asp352Tyr) rs2495703159
NM_033310.3(KCNK4):c.1136G>T (p.Arg379Leu) rs769680927
NM_033310.3(KCNK4):c.1160G>A (p.Arg387Gln) rs2495704254
NM_033310.3(KCNK4):c.194T>C (p.Val65Ala) rs767970248
NM_033310.3(KCNK4):c.220G>A (p.Asp74Asn) rs746983974
NM_033310.3(KCNK4):c.349C>T (p.Arg117Cys)
NM_033310.3(KCNK4):c.380G>A (p.Gly127Glu)
NM_033310.3(KCNK4):c.388C>A (p.Leu130Met) rs772525985
NM_033310.3(KCNK4):c.415G>A (p.Gly139Arg) rs2135231835
NM_033310.3(KCNK4):c.421C>T (p.Arg141Trp) rs571383808
NM_033310.3(KCNK4):c.446G>C (p.Gly149Ala) rs2495688591
NM_033310.3(KCNK4):c.451G>A (p.Gly151Ser)
NM_033310.3(KCNK4):c.490C>A (p.Pro164Thr) rs1015112288
NM_033310.3(KCNK4):c.499G>C (p.Val167Leu)
NM_033310.3(KCNK4):c.597G>C (p.Lys199Asn) rs1286520431
NM_033310.3(KCNK4):c.5G>A (p.Arg2His) rs867555217
NM_033310.3(KCNK4):c.605C>T (p.Ala202Val)
NM_033310.3(KCNK4):c.683C>T (p.Ser228Phe) rs1381890684
NM_033310.3(KCNK4):c.686C>T (p.Pro229Leu) rs146535799
NM_033310.3(KCNK4):c.724G>T (p.Gly242Cys) rs766013537
NM_033310.3(KCNK4):c.847A>G (p.Thr283Ala) rs2495701358
NM_033310.3(KCNK4):c.848C>A (p.Thr283Lys)
NM_033310.3(KCNK4):c.866G>A (p.Arg289Gln) rs1044774283
NM_033310.3(KCNK4):c.968C>T (p.Pro323Leu) rs752675226

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