ClinVar Miner

List of variants studied for X-linked cone-rod dystrophy 3

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00356
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
GRCh38/hg38 Xp11.23(chrX:49222435-49226325)x0
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.25+1G>A
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs) rs2147910175
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) rs863225090
NM_001256789.3(CACNA1F):c.2928+5C>T rs2147908085
NM_001256789.3(CACNA1F):c.3037-2A>G rs1057516199
NM_001256789.3(CACNA1F):c.3037-30G>A rs2065733290
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG rs863223294
NM_001256789.3(CACNA1F):c.982A>G (p.Thr328Ala)

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