ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 7 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg) rs2081071796
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val) rs2080905274
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser) rs2080187424
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe) rs796052617
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys) rs1568940442
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) rs1057516093
NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser) rs1057516093
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp) rs2081189736
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser) rs796052633
NM_172107.4(KCNQ2):c.816+2T>A rs2081186625
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser) rs2081101244
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099

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