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: 55
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HGVS dbSNP gnomAD frequency
NM_013296.5(GPSM2):c.1815+22G>A rs705268 0.33412
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09671
NM_013296.5(GPSM2):c.753A>G (p.Ala251=) rs12069435 0.03167
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met) rs35089879 0.03137
NM_013296.5(GPSM2):c.278+5T>C rs9727773 0.03074
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02763
NM_013296.5(GPSM2):c.87G>A (p.Leu29=) rs112935966 0.01226
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln) rs190381417 0.00139
NM_013296.5(GPSM2):c.1263+11G>A rs201878481 0.00077
NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp) rs141562079 0.00061
NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg) rs200378397 0.00014
NM_013296.5(GPSM2):c.683G>A (p.Arg228His) rs757559568 0.00013
NM_013296.5(GPSM2):c.-248-1G>A rs1051372133 0.00010
NM_013296.5(GPSM2):c.1694G>A (p.Ser565Asn) rs199536935 0.00007
NM_013296.5(GPSM2):c.1062+1G>T rs777695770 0.00006
NM_013296.5(GPSM2):c.1356G>A (p.Gly452=) rs377658968 0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys) rs754926445 0.00006
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) rs267606854 0.00006
NM_013296.5(GPSM2):c.953+12G>A rs377727537 0.00006
NM_013296.5(GPSM2):c.-245T>A rs886045024 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_013296.5(GPSM2):c.1601-2A>G rs773445398 0.00004
NM_013296.5(GPSM2):c.1665G>C (p.Gln555His) rs771359771 0.00004
NM_013296.5(GPSM2):c.1208T>C (p.Leu403Ser) rs747510797 0.00003
NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) rs780911321 0.00003
NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr) rs397517232 0.00003
NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly) rs765450533 0.00001
NM_013296.5(GPSM2):c.1244T>C (p.Met415Thr) rs150152015 0.00001
NM_013296.5(GPSM2):c.1799T>A (p.Ile600Asn) rs779688224 0.00001
NM_013296.5(GPSM2):c.186C>T (p.Ser62=) rs199575734 0.00001
NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr) rs747080388 0.00001
NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys) rs757227955 0.00001
NM_013296.5(GPSM2):c.597G>A (p.Ala199=) rs745395767 0.00001
NM_013296.5(GPSM2):c.832C>T (p.Arg278Ter) rs762285081 0.00001
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.5(GPSM2):c.11A>T (p.Asn4Ile)
NM_013296.5(GPSM2):c.1264-1G>T rs2101528079
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) rs147906282
NM_013296.5(GPSM2):c.1473_1474delinsAACC (p.Phe492fs) rs2101542489
NM_013296.5(GPSM2):c.1473del (p.Phe492fs) rs772372530
NM_013296.5(GPSM2):c.1501del (p.Ser501fs) rs761092578
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) rs1553216524
NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del) rs199964596
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_013296.5(GPSM2):c.1600+3A>C
NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter) rs387907010
NM_013296.5(GPSM2):c.279-6T>C rs1648461612
NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg) rs1557862489
NM_013296.5(GPSM2):c.681+1G>A
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013296.5(GPSM2):c.807A>G (p.Leu269=) rs752642372
NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer) rs2101429459
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) rs1060499797

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