ClinVar Miner

List of variants in gene KCNQ2 reported by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.1154T>A (p.Ile385Asn) rs1057519123
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His) rs1064797286
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met) rs373902907
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu) rs781121496
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768
NM_172107.4(KCNQ2):c.320T>C (p.Leu107Pro) rs1555874569
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro) rs1064797285
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro) rs1057519227
NM_172107.4(KCNQ2):c.816+1G>A rs1057519124

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.