ClinVar Miner

List of variants in gene CACNA1F studied for Retinal dystrophy

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.4021G>A (p.Val1341Met) rs1449089841 0.00004
NM_001256789.3(CACNA1F):c.1369+15A>G rs1557110006 0.00001
NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter) rs1365490247 0.00001
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) rs797044676 0.00001
NM_001256789.3(CACNA1F):c.3808G>C (p.Gly1270Arg) rs1391559071 0.00001
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys) rs1557106557 0.00001
NM_001256789.3(CACNA1F):c.4008+1G>A rs782557600 0.00001
NM_001256789.3(CACNA1F):c.1014G>A (p.Trp338Ter) rs2065843670
NM_001256789.3(CACNA1F):c.1159dup (p.Asp387fs) rs2065833777
NM_001256789.3(CACNA1F):c.1183C>T (p.Gln395Ter) rs2065833366
NM_001256789.3(CACNA1F):c.2544-2A>T rs2065753439
NM_001256789.3(CACNA1F):c.2776C>T (p.Arg926Cys) rs886044865
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter) rs2065740868
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter) rs2065717735
NM_001256789.3(CACNA1F):c.3406G>T (p.Glu1136Ter) rs2065701414
NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter) rs2065670611
NM_001256789.3(CACNA1F):c.4008+8_4008+13del rs2065663700
NM_001256789.3(CACNA1F):c.4161T>G (p.Cys1387Trp) rs2065656651
NM_001256789.3(CACNA1F):c.5230C>T (p.Arg1744Trp) rs2065604544
NM_001256789.3(CACNA1F):c.593G>C (p.Gly198Ala) rs2065867223

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