List of variants in gene CSTB reported as likely pathogenic for epilepsy

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)	rs386833439	0.00001
NM_000100.4(CSTB):c.168G>A (p.Lys56=)	rs386833440
NM_000100.4(CSTB):c.169-2A>G	rs386833441
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	rs796943858
NM_000100.4(CSTB):c.76C>T (p.Gln26Ter)

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