ClinVar Miner

List of variants in gene CSTB studied for Progressive myoclonic epilepsy

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr) rs559906825 0.00010
NM_000100.4(CSTB):c.183C>T (p.Asp61=) rs772899788 0.00009
NM_000100.4(CSTB):c.120C>T (p.Ala40=) rs368198839 0.00004
NM_000100.4(CSTB):c.147G>A (p.Ala49=) rs766654703 0.00004
NM_000100.4(CSTB):c.175G>A (p.Val59Ile) rs531685360 0.00004
NM_000100.4(CSTB):c.192C>T (p.Phe64=) rs773820884 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.264C>T (p.Asn88=) rs767258722 0.00004
NM_000100.4(CSTB):c.67-10T>G rs199873087 0.00004
NM_000100.4(CSTB):c.67-12C>T rs776841907 0.00004
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg) rs935774172 0.00003
NM_000100.4(CSTB):c.96C>T (p.Asn32=) rs1436155713 0.00003
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys) rs762082236 0.00002
NM_000100.4(CSTB):c.168+13C>T rs910966552 0.00002
NM_000100.4(CSTB):c.180C>T (p.Gly60=) rs771027631 0.00002
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser) rs766285245 0.00002
NM_000100.4(CSTB):c.135C>T (p.Ser45=) rs375008755 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
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.169-10C>G rs1487271257 0.00001
NM_000100.4(CSTB):c.169G>T (p.Val57Leu) rs796052394 0.00001
NM_000100.4(CSTB):c.174C>T (p.His58=) rs763095750 0.00001
NM_000100.4(CSTB):c.177C>T (p.Val59=) rs765477010 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.201G>A (p.Leu67=) rs1249703879 0.00001
NM_000100.4(CSTB):c.213A>G (p.Gln71=) rs758639236 0.00001
NM_000100.4(CSTB):c.243C>T (p.Thr81=) rs2083999070 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_000021.8:g.(?_45194083)_(45196150_?)del
NC_000021.9:g.(?_43772665)_(43777375_?)dup
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.111G>A (p.Val37=)
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr) rs1365612504
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
NM_000100.4(CSTB):c.121del (p.Val41fs) rs1257171692
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.144C>T (p.Val48=)
NM_000100.4(CSTB):c.145del (p.Ala49fs)
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu) rs754421704
NM_000100.4(CSTB):c.168+19G>T
NM_000100.4(CSTB):c.168+5A>G
NM_000100.4(CSTB):c.168+6G>C
NM_000100.4(CSTB):c.168+7T>C
NM_000100.4(CSTB):c.168+8G>A rs556221258
NM_000100.4(CSTB):c.169-13G>A
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.200_203dup (p.Val69fs) rs1601855887
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.4(CSTB):c.207G>T (p.Val69=)
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro) rs796052392
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln) rs2083999131
NM_000100.4(CSTB):c.246A>G (p.Leu82=) rs2123385440
NM_000100.4(CSTB):c.251_254del (p.Asn84fs) rs1555888363
NM_000100.4(CSTB):c.273G>A (p.Lys91=) rs540215875
NM_000100.4(CSTB):c.294C>T (p.Phe98=) rs2123385381
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg) rs2083998796
NM_000100.4(CSTB):c.67-4C>G rs2084002305
NM_000100.4(CSTB):c.96_98del (p.Asn32del) rs750620672

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