ClinVar Miner

List of variants in gene KCNV2 reported as likely pathogenic for Retinal dystrophy

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter) rs778977288 0.00001
NM_133497.4(KCNV2):c.643A>T (p.Lys215Ter) rs763785730 0.00001
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs) rs1554628460
NM_133497.4(KCNV2):c.381del (p.Thr128fs) rs141099767
NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs) rs1819778559
NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg) rs977790637
NM_133497.4(KCNV2):c.721_722delinsTA (p.Pro241Ter) rs1819787095
NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly) rs754275640
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs) rs1819797791

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