ClinVar Miner

List of variants in gene CACNA1F reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.1751G>A (p.Arg584His) rs781913575 0.00004
NM_001256789.3(CACNA1F):c.1276+39C>T rs1336441115
NM_001256789.3(CACNA1F):c.1A>T (p.Met1Leu) rs1064797372
NM_001256789.3(CACNA1F):c.226_231del (p.Thr76_Leu77del) rs1602658416
NM_001256789.3(CACNA1F):c.3181G>C (p.Val1061Leu) rs150518705
NM_001256789.3(CACNA1F):c.3387C>A (p.Phe1129Leu)
NM_001256789.3(CACNA1F):c.3863G>C (p.Arg1288Pro) rs1316183278
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) rs1602621312
NM_001256789.3(CACNA1F):c.988G>A (p.Glu330Lys) rs2065843939

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