ClinVar Miner

List of variants in gene KCNV2 reported by GeneDx

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.-42C>G rs7029012 0.60151
NM_133497.4(KCNV2):c.183C>G (p.Gly61=) rs10967705 0.59972
NM_133497.4(KCNV2):c.920T>G (p.Met307Arg) rs201074293 0.00054
NM_133497.4(KCNV2):c.1196C>T (p.Ala399Val) rs200444639 0.00016
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter) rs139027297 0.00003
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_133497.4(KCNV2):c.1534C>A (p.Arg512Ser)
NM_133497.4(KCNV2):c.29C>A (p.Ser10Tyr)
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter) rs202036979
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.8_11del (p.Lys3fs) rs786205121

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