List of variants in gene CACNA1A reported by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer)	rs1568440440
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val)	rs1599396496
NM_001127222.2(CACNA1A):c.2067_2068delinsGGAG (p.Phe689fs)	rs1568514371
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu)	rs762654239
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs)	rs1600272344
NM_001127222.2(CACNA1A):c.3515dup (p.Ala1173fs)
NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr)
NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser)	rs2144748359
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs)	rs2056600391
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln)	rs1199275549

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