ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance for KCNQ2-related epileptic encephalopathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642
NM_172107.4(KCNQ2):c.1280G>A (p.Gly427Glu) rs1601590796
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.2030G>C (p.Arg677Pro) rs1326189284
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099

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