ClinVar Miner

List of variants in gene KCNV2 studied for Retinal dystrophy

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00050
NM_133497.4(KCNV2):c.1384_1386del (p.Asp462del) rs1414078352 0.00003
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_133497.4(KCNV2):c.931G>C (p.Gly311Arg) rs202200956 0.00001
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
NM_133497.4(KCNV2):c.1063T>C (p.Phe355Leu) rs75645675
NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs) rs1554628460
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_133497.4(KCNV2):c.1388T>G (p.Met463Arg) rs773096508
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter) rs202036979
NM_133497.4(KCNV2):c.357C>G (p.Pro119=) rs1819772981
NM_133497.4(KCNV2):c.381del (p.Thr128fs) rs141099767
NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs) rs1819778559
NM_133497.4(KCNV2):c.529T>C (p.Cys177Arg) rs751600925
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.8_11del (p.Lys3fs) rs786205121
NM_133497.4(KCNV2):c.931G>A (p.Gly311Ser) rs202200956
NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly) rs754275640
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs) rs1819797791
NM_133497.4(KCNV2):c.989T>C (p.Phe330Ser) rs1819797955

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