ClinVar Miner

List of variants in gene CACNA1F studied for blindness (disorder)

Included ClinVar conditions (48):
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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00356
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) rs986816548 0.00007
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn) rs376042913 0.00004
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.2086-2A>G rs1358925739 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter) rs782034481 0.00001
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) rs122456133
NM_001256789.3(CACNA1F):c.1118+1G>C rs2065841382
NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs) rs1557110192
NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs)
NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter) rs1557110046
NM_001256789.3(CACNA1F):c.1433_1463+7del rs1557109912
NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs)
NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs) rs1557109796
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His) rs146847449
NM_001256789.3(CACNA1F):c.1579_1599del (p.Leu527_Leu533del) rs2147917984
NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=) rs782527288
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs) rs2065808928
NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs) rs1602658505
NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe) rs1344295491
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg) rs2065788651
NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs)
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys) rs1602644716
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter) rs1602641426
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu) rs2065752304
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.2928+5C>T rs2147908085
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001256789.3(CACNA1F):c.3037-30G>A rs2065733290
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter) rs2065717735
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys) rs1557107417
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp) rs2065717075
NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs) rs1557107192
NM_001256789.3(CACNA1F):c.3458C>A (p.Ala1153Asp)
NM_001256789.3(CACNA1F):c.3481del (p.Arg1161fs)
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) rs1602630650
NM_001256789.3(CACNA1F):c.4054AAC[2] (p.Asn1354del) rs2065661046
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.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs)
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) rs1602621312
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter) rs1557110988
NM_001256789.3(CACNA1F):c.818-820del rs2065854138
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499

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