ClinVar Miner

List of variants in gene CACNA1F reported as uncertain significance by GeneDx

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2666G>A (p.Arg889His) rs139263092 0.00006
NM_001256789.3(CACNA1F):c.1276+39C>A rs1336441115 0.00003
NM_001256789.3(CACNA1F):c.3500C>T (p.Pro1167Leu) rs782564122 0.00002
NM_001256789.3(CACNA1F):c.1879C>T (p.His627Tyr) rs782485066 0.00001
NM_001256789.3(CACNA1F):c.2167G>A (p.Val723Met) rs1569528322 0.00001
NM_001256789.3(CACNA1F):c.1042C>T (p.Pro348Ser) rs1085307793
NM_001256789.3(CACNA1F):c.1423G>A (p.Asp475Asn)
NM_001256789.3(CACNA1F):c.2101G>T (p.Asp701Tyr) rs2147913764
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.2647A>C (p.Ile883Leu) rs2147909595
NM_001256789.3(CACNA1F):c.2672A>T (p.His891Leu)
NM_001256789.3(CACNA1F):c.3074C>T (p.Thr1025Ile)
NM_001256789.3(CACNA1F):c.3146G>A (p.Arg1049Gln)
NM_001256789.3(CACNA1F):c.3438+5C>A rs2147902751
NM_001256789.3(CACNA1F):c.3633G>A (p.Met1211Ile)
NM_001256789.3(CACNA1F):c.4209_4215delinsAAATTTG (p.Ser1403_Phe1405delinsArgAsnLeu)
NM_001256789.3(CACNA1F):c.433A>G (p.Lys145Glu)
NM_001256789.3(CACNA1F):c.5020G>A (p.Asp1674Asn)
NM_001256789.3(CACNA1F):c.988G>A (p.Glu330Lys) rs2065843939

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