ClinVar Miner

List of variants reported as pathogenic for X-linked cone-rod dystrophy 3

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NG_009095.2:g.(16929_16947)_(21383_21401)del
NM_001256789.3(CACNA1F):c.157C>T (p.Gln53Ter)
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs) rs2147916504
NM_001256789.3(CACNA1F):c.1877+1G>T rs2147916480
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs) rs2147910175
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) rs863225090
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG rs863223294

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