ClinVar Miner

Variants in gene KCNQ2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 29
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_172107.4(KCNQ2):c.1763+47G>C rs77658489 0.00237
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00089
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00045
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588 0.00037
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val) rs201750561 0.00035
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 0.00034
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_172107.4(KCNQ2):c.1832C>T (p.Ala611Val) rs199644682 0.00015
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981 0.00015
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245 0.00012
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472 0.00011
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915 0.00011
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=) rs374526673 0.00006
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=) rs147453497 0.00003
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=) rs200224824 0.00003
NM_172107.4(KCNQ2):c.515-9G>A rs755243604 0.00003
NM_172107.4(KCNQ2):c.1118+69C>A rs142571798
NM_172107.4(KCNQ2):c.1118+69C>T rs142571798
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545

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