List of variants in gene CACNA1B reported as pathogenic for Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000718.4(CACNA1B):c.1147C>T (p.Arg383Ter)	rs1554738159
NM_000718.4(CACNA1B):c.3573_3574del (p.Gly1192fs)	rs1589093778
NM_000718.4(CACNA1B):c.3665del (p.Leu1222fs)	rs1589095160
NM_000718.4(CACNA1B):c.4857+1G>C	rs1589112601

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