ClinVar Miner

List of variants in gene CACNA1F reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys) rs139612152 0.00032
NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg) rs782315613 0.00007
NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg) rs782473510 0.00004
NM_001256789.3(CACNA1F):c.1075G>A (p.Gly359Arg) rs2147921112
NM_001256789.3(CACNA1F):c.1118+6=
NM_001256789.3(CACNA1F):c.1809= (p.Gly603=)
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.3276= (p.His1092=)
NM_001256789.3(CACNA1F):c.522-16G>A rs2147924614

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