List of variants in gene CACNA1A reported as benign by Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4950+96A>C	rs16039	0.97758
NM_001127222.2(CACNA1A):c.1199-31A>G	rs16008	0.81362
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.1198+48G>A	rs2306348	0.64420
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)	rs2248069	0.64010
NM_001127222.2(CACNA1A):c.4867-71A>C	rs16035	0.59301
NM_001127222.2(CACNA1A):c.5731+49C>T	rs3816027	0.54210
NM_001127222.2(CACNA1A):c.4089+71T>C	rs16031	0.53636
NM_001127222.2(CACNA1A):c.293+53G>A	rs16003	0.45781
NM_001127222.2(CACNA1A):c.2280-68C>A	rs12985136	0.45430
NM_001127222.2(CACNA1A):c.1556-93T>A	rs10407951	0.29227
NM_001127222.2(CACNA1A):c.1345+72dup	rs3834988	0.24173
NM_001127222.2(CACNA1A):c.5249+78G>T	rs3765012	0.22456
NM_001127222.2(CACNA1A):c.1345+76G>A	rs3764665	0.21715
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.5941-52C>T	rs72995963	0.13943
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)	rs16023	0.13336
NM_001127222.2(CACNA1A):c.1914-39G>A	rs16015	0.12483
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.3554-90G>A	rs3764580	0.11349
NM_001127222.2(CACNA1A):c.5625+50CTT[4]	rs143245670
NM_001127222.2(CACNA1A):c.6189+74A>C	rs16048
NM_001127222.2(CACNA1A):c.6303+94del	rs3217380

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