ClinVar Miner

List of variants in gene CACNA1F studied for Congenital stationary night blindness 2A

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Total variants: 43
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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 0.01650
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00432
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.3019G>A (p.Gly1007Arg) rs1249437161 0.00002
NM_001256789.3(CACNA1F):c.148C>T (p.Arg50Ter) rs886039560 0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.3725C>T (p.Ala1242Val) rs201256297 0.00001
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter) rs782034481 0.00001
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs) rs2519130860
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) rs122456133
NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs) rs2065832850
NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs) rs2519143271
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.1931C>A (p.Ser644Tyr) rs782443972
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg) rs2065788651
NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs) rs2520968443
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
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.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.2928+5C>T rs2147908085
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.3182T>A (p.Val1061Asp) rs2065717075
NM_001256789.3(CACNA1F):c.3458C>A (p.Ala1153Asp) rs2520868455
NM_001256789.3(CACNA1F):c.3481del (p.Arg1161fs) rs2520867977
NM_001256789.3(CACNA1F):c.3500del (p.Pro1167fs)
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.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs) rs2519139558
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_001256789.3(CACNA1F):c.818-820del rs2065854138

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