ClinVar Miner

List of variants reported as uncertain significance for benign neonatal seizures by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111 0.00016
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208 0.00009
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) rs199682667 0.00006
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478 0.00004
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971 0.00004
NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr) rs201814804 0.00003
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_004519.4(KCNQ3):c.73G>A (p.Ala25Thr) rs1280461599 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609 0.00001
NM_172107.4(KCNQ2):c.2300G>A (p.Arg767Gln) rs752551225 0.00001
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762 0.00001
NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) rs1554625699
NM_004519.4(KCNQ3):c.2295C>A (p.Asp765Glu) rs201183533
NM_172107.4(KCNQ2):c.173GCGCGGGCG[3] (p.Gly61_Gly63dup) rs1362316126

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