List of variants in gene CACNA1A reported by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	rs16024	0.00390
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)	rs772789381	0.00055
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)	rs1266642291	0.00003
NM_001127222.2(CACNA1A):c.1121G>A (p.Arg374Gln)	rs865831227	0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)	rs2055849544	0.00001
NM_001127222.2(CACNA1A):c.1187T>C (p.Ile396Thr)	rs2058520222
NM_001127222.2(CACNA1A):c.1197_1198+6del	rs2058520032
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)	rs2144956340
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter)	rs1568470104
NM_001127222.2(CACNA1A):c.4493C>G (p.Pro1498Arg)	rs2144748419
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326
NM_001127222.2(CACNA1A):c.538G>T (p.Gly180Cys)	rs2144935933
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)	rs2054721635
NM_001127222.2(CACNA1A):c.6656_6658dup (p.His2219dup)	rs749638821
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val)	rs2059190094

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