List of variants in gene CSTB reported as uncertain significance for childhood-onset epilepsy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 51

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HGVS	dbSNP	gnomAD frequency
NM_000100.3(CSTB):c.*355C>G	rs143062585	0.00808
NM_000100.4(CSTB):c.121G>A (p.Val41Met)	rs143153487	0.00101
NM_000100.3(CSTB):c.*435G>A	rs149039598	0.00061
NM_000100.3(CSTB):c.*319G>A	rs536069557	0.00050
NM_000100.4(CSTB):c.67-1G>C	rs147484110	0.00027
NM_000100.3(CSTB):c.*334G>A	rs533969154	0.00015
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr)	rs559906825	0.00010
NM_000100.3(CSTB):c.*301G>A	rs886057111	0.00006
NM_000100.4(CSTB):c.175G>A (p.Val59Ile)	rs531685360	0.00004
NM_000100.4(CSTB):c.221C>T (p.Pro74Leu)	rs753004113	0.00004
NM_000100.4(CSTB):c.224A>G (p.His75Arg)	rs755073483	0.00004
NM_000100.4(CSTB):c.*209A>T	rs1466237377	0.00003
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)	rs935774172	0.00003
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys)	rs762082236	0.00002
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)	rs766285245	0.00002
NM_000100.4(CSTB):c.155A>T (p.Asn52Ile)	rs541671661	0.00001
NM_000100.4(CSTB):c.160T>G (p.Phe54Val)	rs774291632	0.00001
NM_000100.4(CSTB):c.169-14C>T	rs757593576	0.00001
NM_000100.4(CSTB):c.169G>T (p.Val57Leu)	rs796052394	0.00001
NM_000100.4(CSTB):c.184G>A (p.Glu62Lys)	rs147307021	0.00001
NM_000100.4(CSTB):c.196C>T (p.His66Tyr)	rs748818442	0.00001
NM_000100.4(CSTB):c.268G>A (p.Ala90Thr)	rs761504637	0.00001
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)	rs138337167	0.00001
NM_000100.4(CSTB):c.274C>T (p.His92Tyr)	rs796052393	0.00001
NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys)	rs1186810947	0.00001
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys)	rs1358304104	0.00001
NC_000021.9:g.(?_43772665)_(43777375_?)dup
NM_000100.3(CSTB):c.*287G>A	rs768173714
NM_000100.4(CSTB):c.*227A>G	rs886057112
NM_000100.4(CSTB):c.100A>G (p.Lys34Glu)	rs2084002121
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser)	rs748162136
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr)	rs1365612504
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)
NM_000100.4(CSTB):c.139G>C (p.Val47Leu)	rs140799752
NM_000100.4(CSTB):c.140T>G (p.Val47Gly)	rs2084001744
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu)	rs754421704
NM_000100.4(CSTB):c.168+5A>G
NM_000100.4(CSTB):c.168+6G>C
NM_000100.4(CSTB):c.169G>A (p.Val57Met)	rs796052394
NM_000100.4(CSTB):c.172C>T (p.His58Tyr)	rs2083999686
NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)
NM_000100.4(CSTB):c.191T>G (p.Phe64Cys)	rs1569005540
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)	rs570768038
NM_000100.4(CSTB):c.193G>C (p.Val65Leu)	rs570768038
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro)	rs757707761
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)	rs796052392
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln)	rs2083999131
NM_000100.4(CSTB):c.251_254del (p.Asn84fs)	rs1555888363
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)	rs2083998796
NM_000100.4(CSTB):c.96_98del (p.Asn32del)	rs750620672

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