ClinVar Miner

List of variants studied for Unverricht-Lundborg syndrome

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Total variants: 44
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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_000100.4(CSTB):c.*74T>C rs6385 0.01682
NM_000100.4(CSTB):c.*93A>G rs9446 0.01254
NM_000100.3(CSTB):c.*355C>G rs143062585 0.00808
NM_000100.4(CSTB):c.*69A>G rs142767585 0.00798
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_000100.3(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.-42C>T rs776181852 0.00016
NM_000100.3(CSTB):c.*334G>A rs533969154 0.00015
NM_000100.4(CSTB):c.-12G>A rs779920568 0.00010
NM_000100.4(CSTB):c.45G>A (p.Glu15=) rs1057521317 0.00007
NM_000100.3(CSTB):c.*301G>A rs886057111 0.00006
NM_000100.4(CSTB):c.*209A>T rs1466237377 0.00003
NM_000100.4(CSTB):c.9C>T (p.Cys3=) rs555930471 0.00003
NM_000100.3(CSTB):c.-43C>G rs886057113 0.00002
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys) rs762082236 0.00002
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 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.125C>A (p.Ser42Ter) rs386833439 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000100.4(CSTB):c.149G>A (p.Gly50Glu) rs312262708 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
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
NM_000100.3(CSTB):c.*287G>A rs768173714
NM_000100.3(CSTB):c.*325A>G rs28691645
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[2_3]
NM_000100.4(CSTB):c.*227A>G rs886057112
NM_000100.4(CSTB):c.168+2_168+19del rs312262707
NM_000100.4(CSTB):c.168+2_168+21delinsAA rs864309482
NM_000100.4(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.4(CSTB):c.169-2A>G rs386833441
NM_000100.4(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.4(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000100.4(CSTB):c.76C>T (p.Gln26Ter)

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