ClinVar Miner

List of variants reported as uncertain significance for Unverricht-Lundborg syndrome by Illumina Laboratory Services, Illumina

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Total variants: 18
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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_000100.3(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 0.00013
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_000100.3(CSTB):c.-55G>A rs533879406 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_000100.3(CSTB):c.*287G>A rs768173714
NM_000100.4(CSTB):c.*227A>G rs886057112
NM_000100.4(CSTB):c.193G>A (p.Val65Ile) rs570768038

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