ClinVar Miner

List of variants in gene MSH6 reported by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu) rs587779932 0.00004
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr) rs587779926 0.00003
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys) rs786202520 0.00001
GRCh37/hg19 2p16.3(chr2:48018016-48028344)x3
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs) rs2104368213
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs) rs1669432834
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs) rs1572730021
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser) rs1669748364
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) rs1114167767
NM_000179.3(MSH6):c.3685_3686insCCAA (p.Asn1229fs) rs2104538773
NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu) rs1057520473
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094

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.