List of variants in gene CACNA1A reported as likely pathogenic by Institute of Human Genetics, University of Leipzig 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter)	rs1555757537
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	rs1064794262
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs)	rs2057404744
NM_001127222.2(CACNA1A):c.4866+1G>T	rs2144725957
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter)	rs1600139781
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)	rs2055612253
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)

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