List of variants in gene CACNA1A reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=)	rs115452236	0.00026
NM_001127222.2(CACNA1A):c.6526+11C>G	rs767916527	0.00012
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)	rs769040794	0.00006
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs)	rs1555762908
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)	rs1555755909
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp)	rs1555745461

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