ClinVar Miner

List of variants reported as uncertain significance for genetic generalized epilepsy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001037.5(SCN1B):c.448+124G>A rs367608185 0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) rs763428520 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr) rs2074931493
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) rs2140737836
NM_000814.6(GABRB3):c.880C>T (p.Arg294Trp)
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro) rs1692861040
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln) rs1691045272
NM_001165963.4(SCN1A):c.4417T>C (p.Phe1473Leu) rs1690331351
NM_001165963.4(SCN1A):c.4489G>A (p.Asp1497Asn) rs2105462657
NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp) rs1689679432
NM_001165963.4(SCN1A):c.5594T>C (p.Leu1865Pro) rs2105425720
NM_001165963.4(SCN1A):c.5653C>G (p.Leu1885Val) rs1689164800
NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys) rs1689157351
NM_021072.4(HCN1):c.1283G>A (p.Arg428His) rs1265198753
NM_021072.4(HCN1):c.1322G>A (p.Gly441Asp) rs1746946512
NM_052874.5(STX1B):c.205+5G>A rs2056625628
NM_080552.3(SLC32A1):c.1232A>T (p.Gln411Leu)
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met) rs2145649990
NM_198904.4(GABRG2):c.108-1G>T
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe) rs74930063

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