List of variants in gene combination CACNA1A, LOC130063717 reported by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)	rs759576380	0.00004
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)	rs753798870	0.00001
NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His)	rs1219651327	0.00001
NM_001127222.2(CACNA1A):c.6743C>T (p.Ser2248Leu)	rs1274796380	0.00001
NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser)	rs1433873178	0.00001
NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp)	rs760428308
NM_001127222.2(CACNA1A):c.6775C>A (p.Arg2259=)	rs750267834
NM_001127222.2(CACNA1A):c.6778C>T (p.Gln2260Ter)

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