List of variants in gene combination CACNA1A, LOC126862864 reported as pathogenic by GeneDx

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4096T>A (p.Phe1366Ile)	rs1057520749
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg)	rs886041909
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4174G>C (p.Val1392Leu)	rs794727411
NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter)	rs2056733130
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln)	rs1568471977

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