List of variants in gene CSTB, LOC130066788 studied for Unverricht-Lundborg syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000100.3(CSTB):c.-54C>T	rs59649299	0.03508
NM_000100.4(CSTB):c.15G>T (p.Ala5=)	rs4533	0.01826
NM_000100.3(CSTB):c.-42C>T	rs776181852	0.00016
NM_000100.4(CSTB):c.-12G>A	rs779920568	0.00010
NM_000100.4(CSTB):c.45G>A (p.Glu15=)	rs1057521317	0.00007
NM_000100.4(CSTB):c.9C>T (p.Cys3=)	rs555930471	0.00003
NM_000100.3(CSTB):c.-43C>G	rs886057113	0.00002
NM_000100.3(CSTB):c.-55G>A	rs533879406	0.00001
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)	rs74315443	0.00001
NM_000100.4(CSTB):c.10G>T (p.Gly4Trp)	rs74315443	0.00001
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)	rs1569006250
NM_000100.4(CSTB):c.66G>A (p.Gln22=)	rs386833443

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