ClinVar Miner

List of variants studied for Aland island eye disease; X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His) rs146847449
NM_001256789.3(CACNA1F):c.4862G>C (p.Arg1621Pro) rs1187765018

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