List of variants in gene MSH2 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 49

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	rs141711342	0.00063
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)	rs34136999	0.00046
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	rs63750124	0.00031
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)	rs63749910	0.00018
NM_000251.3(MSH2):c.-3G>C	rs587779960	0.00013
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)	rs35107951	0.00011
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)	rs146567853	0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)	rs63751454	0.00008
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)	rs377345366	0.00007
NM_000251.3(MSH2):c.-107C>A	rs587782649	0.00006
NM_000251.3(MSH2):c.1077-7A>G	rs370807334	0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)	rs41295296	0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)	rs202026056	0.00006
NM_000251.3(MSH2):c.-58del	rs1213072301	0.00004
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)	rs587779965	0.00003
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)	rs587781795	0.00003
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)	rs767747378	0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)	rs375351205	0.00003
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)	rs374135434	0.00002
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)	rs755818010	0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)	rs587782396	0.00002
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)	rs776174711	0.00001
NM_000251.3(MSH2):c.2006-4G>A	rs369853630	0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)	rs755920849	0.00001
NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)	rs587778522	0.00001
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)	rs587781996	0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)	rs199676483	0.00001
NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)	rs138857091	0.00001
NM_000251.2(MSH2):c.-106G>C	rs786202882
NM_000251.2(MSH2):c.-81A>T	rs542893403
NM_000251.3(MSH2):c.1352A>G (p.Gln451Arg)	rs878853801
NM_000251.3(MSH2):c.15G>T (p.Pro5=)	rs758054171
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)	rs749212640
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)	rs201118107
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)	rs267607980
NM_000251.3(MSH2):c.2046T>A (p.Thr682=)	rs2104370344
NM_000251.3(MSH2):c.2104G>T (p.Val702Leu)
NM_000251.3(MSH2):c.2210+11_2210+22del	rs730881782
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)	rs587782891
NM_000251.3(MSH2):c.2458+10A>G	rs1269379998
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)	rs63750797
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)	rs587779150
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)	rs587781278
NM_000251.3(MSH2):c.2616G>A (p.Lys872=)	rs1573579171
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)	rs587779970
NM_000251.3(MSH2):c.571C>T (p.Leu191Phe)	rs1553350898
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)	rs139891783
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)	rs4987188
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)	rs63751107

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.