List of variants in gene CACNA1E reported as pathogenic for complex neurodevelopmental disorder

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000721.4(CACNA1E):c.6529C>T (p.Gln2177Ter)
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	rs886039323
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu)	rs778291283
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser)	rs869312920
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val)	rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	rs12131800
NM_001205293.3(CACNA1E):c.2104G>T (p.Ala702Ser)
NM_001205293.3(CACNA1E):c.3940A>C (p.Lys1314Gln)	rs2102682130

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