ClinVar Miner

List of variants in gene KCNQ3 reported as pathogenic for benign neonatal seizures

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NC_000008.10:g.(?_133141509)_(133492779_?)del
NM_004519.4(KCNQ3):c.1078C>T (p.Gln360Ter) rs1554627019
NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys) rs1459374430
NM_004519.4(KCNQ3):c.115G>T (p.Glu39Ter)
NM_004519.4(KCNQ3):c.1206T>A (p.Tyr402Ter) rs1489716280
NM_004519.4(KCNQ3):c.1220_1221del (p.Ser407fs) rs1826288852
NM_004519.4(KCNQ3):c.1423del (p.Ala475fs) rs2130944386
NM_004519.4(KCNQ3):c.1558C>T (p.Arg520Ter) rs1289108911
NM_004519.4(KCNQ3):c.1576C>T (p.Gln526Ter)
NM_004519.4(KCNQ3):c.1599del (p.Lys533fs) rs762289015
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) rs762289015
NM_004519.4(KCNQ3):c.1621del (p.Tyr541fs) rs2130938733
NM_004519.4(KCNQ3):c.1685dup (p.Tyr563fs) rs1563767053
NM_004519.4(KCNQ3):c.1722del (p.Gly575fs) rs1563764788
NM_004519.4(KCNQ3):c.299_302del (p.Asn100fs)
NM_004519.4(KCNQ3):c.61_77del (p.Gly20_Gly21insTer) rs1174348338
NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter) rs796052675
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.710T>A (p.Met237Lys)
NM_004519.4(KCNQ3):c.802G>C (p.Gly268Arg) rs1282879239
NM_004519.4(KCNQ3):c.893del (p.Glu298fs)
NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val) rs796052678
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) rs118192249
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) rs118192250
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) rs1586800133
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His) rs1162306056
NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu) rs1162306056

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