ClinVar Miner

List of variants studied for Congenital stationary night blindness 2A by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002

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