ClinVar Miner

List of variants reported as uncertain significance for KCNQ2-related epileptic encephalopathy by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609

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