ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant epilepsy with auditory features by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005097.4(LGI1):c.345A>G (p.Pro115=) rs151104648 0.00113
NM_005097.4(LGI1):c.*180G>A rs544656851 0.00103
NM_005097.4(LGI1):c.-168G>A rs879390887 0.00081
NM_005097.4(LGI1):c.1A>G (p.Met1Val) rs202204627 0.00080
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00043
NM_005097.4(LGI1):c.1155A>C (p.Leu385=) rs202148793 0.00026
NM_005097.3(LGI1):c.-227T>C rs150194814 0.00011
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) rs373616721 0.00011
NM_005097.4(LGI1):c.1106C>T (p.Ser369Phe) rs150357603 0.00010
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) rs148804268 0.00005
NM_005097.4(LGI1):c.*323A>C rs767119123 0.00003
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu) rs769204967 0.00003
NM_005097.3(LGI1):c.-304C>T rs886047484 0.00001
NM_005097.4(LGI1):c.*282A>G rs1172545288 0.00001
NM_005097.4(LGI1):c.*59T>A rs886047488 0.00001
NM_005097.4(LGI1):c.135G>C (p.Val45=) rs768003944 0.00001
NM_005097.4(LGI1):c.*338G>C rs182654305
NM_005097.4(LGI1):c.-66G>C rs886047485
NM_005097.4(LGI1):c.1125G>C (p.Ala375=) rs886047487
NM_005097.4(LGI1):c.568C>T (p.His190Tyr) rs1345126535
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln) rs750249658
NM_005097.4(LGI1):c.838+11C>T rs886047486

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