List of variants in gene CACNA1A reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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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.2091G>A (p.Thr697=)	rs16016	0.11927
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.1782-20C>T	rs73513425	0.03727
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)	rs16011	0.03687
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)	rs16029	0.01749
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)	rs16012	0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)	rs41276894	0.01215
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=)	rs7249722	0.00766
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)	rs16026	0.00616
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	rs41276886	0.00451
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)	rs768950814

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