ClinVar Miner

List of variants in gene GPSM2 reported as uncertain significance for Chudley-McCullough syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_013296.5(GPSM2):c.-245T>A rs886045024
NM_013296.5(GPSM2):c.-248-1G>A rs1051372133
NM_013296.5(GPSM2):c.-288C>A
NM_013296.5(GPSM2):c.-306C>A rs550061353
NM_013296.5(GPSM2):c.-316C>T
NM_013296.5(GPSM2):c.-357C>T rs564045797
NM_013296.5(GPSM2):c.-369G>A rs886045023
NM_013296.5(GPSM2):c.-397C>G rs749825634
NM_013296.5(GPSM2):c.-426G>A rs527368687
NM_013296.5(GPSM2):c.-441G>C rs886045022
NM_013296.5(GPSM2):c.-453C>T
NM_013296.5(GPSM2):c.-469C>G rs541910644
NM_013296.5(GPSM2):c.-486G>C rs190373749
NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly) rs765450533
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp) rs141562079
NM_013296.5(GPSM2):c.1244T>C (p.Met415Thr) rs150152015
NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) rs780911321
NM_013296.5(GPSM2):c.1263+11G>A rs201878481
NM_013296.5(GPSM2):c.1356G>A (p.Gly452=) rs377658968
NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg) rs200378397
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala)
NM_013296.5(GPSM2):c.1665G>C (p.Gln555His)
NM_013296.5(GPSM2):c.1694G>A (p.Ser565Asn)
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689
NM_013296.5(GPSM2):c.1799T>A (p.Ile600Asn) rs779688224
NM_013296.5(GPSM2):c.186C>T (p.Ser62=) rs199575734
NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr)
NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys) rs757227955
NM_013296.5(GPSM2):c.279-6T>C
NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg) rs1557862489
NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr) rs397517232
NM_013296.5(GPSM2):c.597G>A (p.Ala199=)
NM_013296.5(GPSM2):c.683G>A (p.Arg228His) rs757559568
NM_013296.5(GPSM2):c.807A>G (p.Leu269=)
NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln) rs190381417
NM_013296.5(GPSM2):c.953+12G>A

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.