ClinVar Miner

List of variants in gene KCNV2 studied for not specified

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.183C>G (p.Gly61=) rs10967705 0.59972
NM_133497.4(KCNV2):c.795C>G (p.Ala265=) rs12237048 0.45225
NM_133497.4(KCNV2):c.1597C>G (p.Leu533Val) rs12352254 0.15512
NM_133497.4(KCNV2):c.*6T>C rs41306094 0.10348
NM_133497.4(KCNV2):c.759A>G (p.Pro253=) rs10967709 0.10241
NM_133497.4(KCNV2):c.1386C>T (p.Asp462=) rs41312842 0.06369
NM_133497.4(KCNV2):c.978C>T (p.Asp326=) rs7860945 0.04812
NM_133497.4(KCNV2):c.915G>A (p.Val305=) rs7859993 0.04465
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_133497.4(KCNV2):c.676G>A (p.Val226Ile) rs74587818 0.00669
NM_133497.4(KCNV2):c.312T>C (p.Gly104=) rs150685794 0.00511
NM_133497.4(KCNV2):c.144G>A (p.Glu48=) rs79889344 0.00297
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys) rs76776637 0.00254
NM_133497.4(KCNV2):c.291C>T (p.Ser97=) rs113456345 0.00237
NM_133497.4(KCNV2):c.612G>A (p.Glu204=) rs186159326 0.00123
NM_133497.4(KCNV2):c.828G>A (p.Ala276=) rs144330480 0.00076
NM_133497.4(KCNV2):c.920T>G (p.Met307Arg) rs201074293 0.00054
NM_133497.4(KCNV2):c.957G>A (p.Leu319=) rs141378856 0.00053
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn) rs201327014 0.00035
NM_133497.4(KCNV2):c.280G>A (p.Ala94Thr) rs148550258 0.00012
NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr) rs558295858 0.00006
NM_133497.4(KCNV2):c.1497C>T (p.Tyr499=) rs747466519 0.00005

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