ClinVar Miner

List of variants in gene GPSM2 studied for Chudley-McCullough syndrome

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Gene type:
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Total variants: 54
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HGVS dbSNP
GPSM2, 1-BP DEL, 1473G
NM_013296.5(GPSM2):c.-245T>A rs886045024
NM_013296.5(GPSM2):c.-248-1G>A rs1051372133
NM_013296.5(GPSM2):c.-258C>T rs35520362
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.-429C>T rs115082541
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.1062+1G>T rs777695770
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.1370C>T (p.Thr457Met) rs35089879
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala)
NM_013296.5(GPSM2):c.1501del (p.Ser501fs)
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) rs1553216524
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476
NM_013296.5(GPSM2):c.1665G>C (p.Gln555His)
NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter) rs387907010
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.278+5T>C rs9727773
NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys) rs757227955
NM_013296.5(GPSM2):c.279-6T>C
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) rs267606854
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678
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.742del (p.Gly249fs) rs528069912
NM_013296.5(GPSM2):c.753A>G (p.Ala251=) rs12069435
NM_013296.5(GPSM2):c.807A>G (p.Leu269=)
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489
NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln) rs190381417
NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer)
NM_013296.5(GPSM2):c.87G>A (p.Leu29=) rs112935966
NM_013296.5(GPSM2):c.953+12G>A

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