ClinVar Miner

List of variants in gene CACNA1F studied for Congenital stationary night blindness

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2086-2A>G rs1358925739 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001256789.3(CACNA1F):c.1118+1G>C rs2065841382
NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs) rs1557110192
NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter) rs1557110046
NM_001256789.3(CACNA1F):c.1433_1463+7del rs1557109912
NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs) rs1557109796
NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs) rs1602658505
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys) rs1602644716
NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter) rs1602641426
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.2733+1G>A rs1557108147
NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs) rs1602639607
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys) rs1557107417
NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs) rs1557107192
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) rs1602630650
NM_001256789.3(CACNA1F):c.4261-9G>A rs1602628429
NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu) rs1557106008
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu) rs1602627593
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) rs1602621312
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter) rs1557110988
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499

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