ClinVar Miner

List of variants reported as pathogenic for autosomal dominant epilepsy with auditory features

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) rs1027289865 0.00001
NC_000007.13:g.(?_102937907)_(103629803_?)del
NC_000007.13:g.(?_103389853)_(103474139_?)del
NC_000010.10:g.(?_95517882)_(95537394_?)del
NC_000010.10:g.(?_95517902)_(95518136_?)del
NC_000010.11:g.(93704377_?)_(?_93785620)del
NC_000010.11:g.(?_93161309)_(93797823_?)del
NM_005045.4(RELN):c.1475del (p.Asn492fs)
NM_005045.4(RELN):c.2075del (p.Asp692fs)
NM_005045.4(RELN):c.2086dup (p.Ser696fs) rs1832583187
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2364del (p.Asp789fs) rs2117348851
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
NM_005045.4(RELN):c.3215del (p.Asp1072fs) rs1831725857
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter) rs2117255208
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter) rs2117248586
NM_005045.4(RELN):c.4190del (p.Asn1397fs) rs2117208388
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs) rs2117205170
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter) rs2117204949
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter) rs2117189408
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs) rs2117188195
NM_005045.4(RELN):c.5115del (p.Ile1706fs)
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
NM_005045.4(RELN):c.5455del (p.Glu1819fs)
NM_005045.4(RELN):c.5489del (p.Gly1830fs)
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) rs1830401647
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
NM_005045.4(RELN):c.6474del (p.Cys2159fs) rs2117139699
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter) rs1829533362
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) rs2117021067
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) rs869025201
NM_005097.4(LGI1):c.108del (p.Lys36fs) rs2133975489
NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter)
NM_005097.4(LGI1):c.1118T>A (p.Leu373Ter) rs2134026513
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) rs28937874
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) rs1554907767
NM_005097.4(LGI1):c.1252C>T (p.Gln418Ter) rs2134026684
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) rs1554907787
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1396C>T (p.Gln466Ter)
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) rs1554907835
NM_005097.4(LGI1):c.1442del (p.Pro481fs) rs2134026964
NM_005097.4(LGI1):c.1465del (p.Tyr489fs) rs1589776148
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005097.4(LGI1):c.1599dup (p.Asn534Ter) rs2134027169
NM_005097.4(LGI1):c.360-3C>A rs1589762127
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) rs1564845068
NM_005097.4(LGI1):c.416del (p.Lys139fs)
NM_005097.4(LGI1):c.431+1G>A rs2134001459
NM_005097.4(LGI1):c.443dup (p.Asn148fs) rs2134017940
NM_005097.4(LGI1):c.446_449del (p.Asn149fs) rs2134017952
NM_005097.4(LGI1):c.598del (p.Cys200fs)
NM_005097.4(LGI1):c.600C>A (p.Cys200Ter)
NM_005097.4(LGI1):c.611del (p.Pro204fs)
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.4(LGI1):c.795G>A (p.Trp265Ter) rs2134021516
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_015973.5(GAL):c.116C>A (p.Ala39Glu) rs1057517661
NM_022765.4(MICAL1):c.-43-1G>A rs2115340270

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