ClinVar Miner

List of variants in gene KCNV2 reported as pathogenic for not provided

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter) rs139027297 0.00003
NM_133497.4(KCNV2):c.531T>A (p.Cys177Ter) rs1282433030 0.00002
NM_133497.4(KCNV2):c.325C>T (p.Gln109Ter) rs1478587308 0.00001
NM_133497.4(KCNV2):c.866del (p.Ser289fs) rs758877996 0.00001
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys) rs754275640 0.00001
NC_000009.11:g.(?_2717738)_(2719115_?)del
NC_000009.11:g.(?_2717755)_(2728666_?)del
NC_000009.11:g.(?_2717758)_(2728666_?)del
NC_000009.11:g.(?_2729426)_(2729727_?)del
NC_000009.12:g.(?_2717740)_(2729727_?)del
NM_133497.4(KCNV2):c.1057G>T (p.Glu353Ter)
NM_133497.4(KCNV2):c.1096del (p.Val366fs) rs1486482604
NM_133497.4(KCNV2):c.1108_1195del (p.Gly370fs)
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter) rs138924201
NM_133497.4(KCNV2):c.1199del (p.Phe400fs) rs768486552
NM_133497.4(KCNV2):c.1211T>C (p.Leu404Pro) rs1819808781
NM_133497.4(KCNV2):c.1295_1296del (p.Val432fs) rs1318199256
NM_133497.4(KCNV2):c.1336dup (p.His446fs)
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_133497.4(KCNV2):c.153T>A (p.Tyr51Ter)
NM_133497.4(KCNV2):c.196C>T (p.Gln66Ter)
NM_133497.4(KCNV2):c.19_20del (p.Arg7fs) rs1385132304
NM_133497.4(KCNV2):c.226C>T (p.Gln76Ter) rs387907302
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter) rs202036979
NM_133497.4(KCNV2):c.361del (p.Thr121fs) rs2130860471
NM_133497.4(KCNV2):c.39C>G (p.Tyr13Ter)
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter) rs748280472
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_133497.4(KCNV2):c.430G>T (p.Glu144Ter) rs777051584
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter) rs140256288
NM_133497.4(KCNV2):c.491del (p.Phe164fs) rs2130860673
NM_133497.4(KCNV2):c.547G>T (p.Glu183Ter) rs1272477167
NM_133497.4(KCNV2):c.563G>A (p.Trp188Ter)
NM_133497.4(KCNV2):c.564G>C (p.Trp188Cys) rs772921412
NM_133497.4(KCNV2):c.613G>T (p.Glu205Ter) rs753157401
NM_133497.4(KCNV2):c.625G>T (p.Glu209Ter)
NM_133497.4(KCNV2):c.649C>T (p.Gln217Ter) rs2130860955
NM_133497.4(KCNV2):c.656_657del (p.Glu219fs) rs2130860973
NM_133497.4(KCNV2):c.700dup (p.Arg234fs)
NM_133497.4(KCNV2):c.705_706dup (p.Met236fs)
NM_133497.4(KCNV2):c.741G>A (p.Trp247Ter) rs2130861136
NM_133497.4(KCNV2):c.774del (p.Ala259fs) rs753147277
NM_133497.4(KCNV2):c.781del (p.Ala261fs) rs2130861209
NM_133497.4(KCNV2):c.856C>T (p.Gln286Ter)
NM_133497.4(KCNV2):c.866C>A (p.Ser289Ter) rs569992163
NM_133497.4(KCNV2):c.889_901del (p.Asp297fs) rs1563795658
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) rs786205121
NM_133497.4(KCNV2):c.951C>G (p.Tyr317Ter) rs1432037634
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs) rs1819797791
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs) rs986350598

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