List of variants in gene CACNA1A reported as pathogenic by Mendelics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)	rs1568514116
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs)	rs1600242882
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)	rs1568473171
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.605C>T (p.Pro202Leu)	rs2144559262

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