List of variants in gene CACNA1A reported by Diagnostic Laboratory, Department of Genetics, University Medical Center 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)	rs16051	0.67380
NM_001127222.2(CACNA1A):c.2173-12C>T	rs16018	0.66161
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)	rs2248069	0.64010
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)	rs16030	0.17482
NM_001127222.2(CACNA1A):c.5401-14C>T	rs16042	0.16269
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)	rs16025	0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)	rs16023	0.13336
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)	rs16022	0.11855
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)	rs16006	0.08064
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)	rs16027	0.07737
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	rs41276886	0.00451
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)	rs1052515747	0.00024
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)	rs1033214914	0.00006
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)	rs374063403	0.00002
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247

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