List of variants in gene CACNA1A reported by O&I group, Department of Genetics, University Medical Center of Groningen

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)	rs121908235	0.00006
NM_001127222.2(CACNA1A):c.3149T>C (p.Ile1050Thr)	rs2057414053	0.00001
NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro)	rs2145030753
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)	rs1233611505
NM_001127222.2(CACNA1A):c.3414del (p.Thr1139fs)	rs2144887631
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu)	rs2144646945
NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp)	rs2144595194
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	rs1555773764

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