ClinVar Miner

List of variants in gene KCNQ2 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1631+5G>A rs1178354607 0.00001
NM_172107.4(KCNQ2):c.1937A>G (p.Gln646Arg) rs766755499 0.00001
NM_172107.4(KCNQ2):c.1007C>T (p.Ala336Val) rs2145712091
NM_172107.4(KCNQ2):c.1020C>G (p.Ile340Met) rs752073942
NM_172107.4(KCNQ2):c.1049A>T (p.Asn350Ile) rs772800738
NM_172107.4(KCNQ2):c.1067T>C (p.Leu356Pro) rs1057518772
NM_172107.4(KCNQ2):c.1075A>G (p.Thr359Ala) rs1064793334
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1117dup (p.Ser373fs) rs1600731888
NM_172107.4(KCNQ2):c.1178del (p.Leu393fs) rs1555860693
NM_172107.4(KCNQ2):c.1539del (p.Gly514fs) rs1064794686
NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg) rs118192232
NM_172107.4(KCNQ2):c.1631G>A (p.Cys544Tyr) rs1057518492
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln) rs1057517919
NM_172107.4(KCNQ2):c.1733T>C (p.Met578Thr) rs1555853524
NM_172107.4(KCNQ2):c.1742G>T (p.Arg581Leu) rs118192235
NM_172107.4(KCNQ2):c.1823del (p.Pro608fs) rs2145497168
NM_172107.4(KCNQ2):c.1880del (p.Glu627fs) rs1601548832
NM_172107.4(KCNQ2):c.1887+1G>T rs796052670
NM_172107.4(KCNQ2):c.1955del (p.Pro652fs)
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2114dup (p.Ala706fs) rs1555850868
NM_172107.4(KCNQ2):c.285C>A (p.Tyr95Ter) rs1555881741
NM_172107.4(KCNQ2):c.287A>C (p.His96Pro) rs868055567
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del) rs1064795435
NM_172107.4(KCNQ2):c.311T>C (p.Phe104Ser) rs1064796940
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe) rs796052616
NM_172107.4(KCNQ2):c.338_339delinsAT (p.Ser113Tyr) rs1555874555
NM_172107.4(KCNQ2):c.340A>C (p.Thr114Pro) rs1057516076
NM_172107.4(KCNQ2):c.458G>A (p.Arg153Gln)
NM_172107.4(KCNQ2):c.478C>T (p.Arg160Trp) rs2081378361
NM_172107.4(KCNQ2):c.505T>C (p.Cys169Arg) rs1555873939
NM_172107.4(KCNQ2):c.506G>T (p.Cys169Phe) rs1064793392
NM_172107.4(KCNQ2):c.514+5G>C rs2081377457
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.4(KCNQ2):c.599T>C (p.Leu200Pro) rs796052622
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.612G>T (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val) rs1057524599
NM_172107.4(KCNQ2):c.635A>T (p.Asp212Val) rs118192202
NM_172107.4(KCNQ2):c.641G>C (p.Arg214Pro) rs1057518555
NM_172107.4(KCNQ2):c.657G>C (p.Lys219Asn) rs770290221
NM_172107.4(KCNQ2):c.682C>T (p.His228Tyr) rs1555873665
NM_172107.4(KCNQ2):c.712A>C (p.Ile238Leu) rs747050726
NM_172107.4(KCNQ2):c.743T>C (p.Phe248Ser) rs1057518068
NM_172107.4(KCNQ2):c.764A>G (p.Lys255Arg) rs1555871862
NM_172107.4(KCNQ2):c.776A>G (p.Asp259Gly) rs1057518489
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.4(KCNQ2):c.790T>A (p.Tyr264Asn) rs796052632
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr) rs2145735332
NM_172107.4(KCNQ2):c.806G>T (p.Trp269Leu) rs796052633
NM_172107.4(KCNQ2):c.818T>A (p.Ile273Asn) rs796052635
NM_172107.4(KCNQ2):c.819C>G (p.Ile273Met) rs771282785
NM_172107.4(KCNQ2):c.823C>G (p.Leu275Val) rs2145719697
NM_172107.4(KCNQ2):c.833T>A (p.Ile278Asn) rs1057523728
NM_172107.4(KCNQ2):c.842G>A (p.Gly281Glu) rs1064795489
NM_172107.4(KCNQ2):c.856dup (p.Gln286fs) rs1555870470
NM_172107.4(KCNQ2):c.875_876delinsCCT (p.Leu292fs) rs796052664
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val) rs1131691936
NM_172107.4(KCNQ2):c.932T>A (p.Ile311Asn) rs1131691356
NM_172107.4(KCNQ2):c.935T>C (p.Leu312Ser) rs1057518619
NM_172107.4(KCNQ2):c.940T>C (p.Ser314Pro) rs1064795058
NM_172107.4(KCNQ2):c.956A>G (p.Lys319Arg) rs1057524860
NM_172107.4(KCNQ2):c.982C>A (p.His328Asn) rs1555869803
NM_172107.4(KCNQ2):c.986T>C (p.Phe329Ser) rs1064796535

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.