ClinVar Miner

List of variants in gene combination DHFR, MSH3 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_000791.4(DHFR):c.-473T>C rs1650697 0.80068
NM_000791.4(DHFR):c.-400A>G rs2405875 0.02618
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_000791.4(DHFR):c.-411G>A rs201149584 0.00430
NM_000791.4(DHFR):c.-367T>C rs141080879 0.00183
NM_000791.4(DHFR):c.-443G>A rs577919981 0.00127
NM_002439.5(MSH3):c.225G>T (p.Leu75=) rs757491337 0.00047
NM_000791.4(DHFR):c.-349G>A rs146523896 0.00024
NM_000791.4(DHFR):c.-254G>A rs374904719 0.00016
NM_000791.4(DHFR):c.-334T>G rs145429648 0.00009
NM_002439.5(MSH3):c.219C>T (p.Pro73=) rs778136308 0.00007
NM_002439.5(MSH3):c.171C>T (p.Ala57=) rs201906899 0.00005
NM_000791.4(DHFR):c.-379C>T rs772266495 0.00004
NM_002439.5(MSH3):c.133G>C (p.Asp45His) rs755350309 0.00004
NM_002439.5(MSH3):c.143A>C (p.Asp48Ala) rs773388641 0.00004
NM_002439.5(MSH3):c.146C>G (p.Pro49Arg) rs564858245 0.00004
NM_002439.5(MSH3):c.26G>A (p.Gly9Asp) rs369278563 0.00004
NM_000791.4(DHFR):c.-369G>C rs780457592 0.00003
NM_002439.5(MSH3):c.122C>A (p.Thr41Lys) rs763928973 0.00003
NM_002439.5(MSH3):c.145C>T (p.Pro49Ser) rs775307118 0.00003
NM_002439.5(MSH3):c.161C>T (p.Ala54Val) rs767048342 0.00003
NM_002439.5(MSH3):c.180C>T (p.Ala60=) rs748485429 0.00003
NM_002439.5(MSH3):c.198C>T (p.Pro66=) rs1435558278 0.00003
NM_002439.5(MSH3):c.106T>G (p.Ser36Ala) rs773158640 0.00002
NM_002439.5(MSH3):c.117C>T (p.Ser39=) rs762866873 0.00002
NM_002439.5(MSH3):c.130G>C (p.Ala44Pro) rs756684854 0.00002
NM_002439.5(MSH3):c.150C>G (p.Gly50=) rs774275160 0.00002
NM_002439.5(MSH3):c.216G>A (p.Pro72=) rs758709284 0.00002
NM_002439.5(MSH3):c.33C>T (p.Leu11=) rs564921007 0.00002
NM_002439.5(MSH3):c.57G>T (p.Ala19=) rs1447333327 0.00002
NM_000791.4(DHFR):c.-239T>A rs775714088 0.00001
NM_000791.4(DHFR):c.-319G>A rs749586225 0.00001
NM_000791.4(DHFR):c.-391A>G rs910557064 0.00001
NM_000791.4(DHFR):c.-476C>G rs1196929384 0.00001
NM_002439.5(MSH3):c.107C>G (p.Ser36Cys) rs1470213668 0.00001
NM_002439.5(MSH3):c.114C>G (p.Ser38=) rs368081203 0.00001
NM_002439.5(MSH3):c.11G>A (p.Arg4Gln) rs1442281976 0.00001
NM_002439.5(MSH3):c.121A>C (p.Thr41Pro) rs1580538038 0.00001
NM_002439.5(MSH3):c.124G>T (p.Gly42Cys) rs756968089 0.00001
NM_002439.5(MSH3):c.128C>T (p.Ala43Val) rs928378977 0.00001
NM_002439.5(MSH3):c.134A>G (p.Asp45Gly) rs1229897499 0.00001
NM_002439.5(MSH3):c.136C>T (p.Gln46Ter) rs779180469 0.00001
NM_002439.5(MSH3):c.139G>A (p.Val47Met) rs1024354123 0.00001
NM_002439.5(MSH3):c.144C>T (p.Asp48=) rs747024539 0.00001
NM_002439.5(MSH3):c.175G>C (p.Ala59Pro) rs755472095 0.00001
NM_002439.5(MSH3):c.186G>A (p.Ala62=) rs1561429048 0.00001
NM_002439.5(MSH3):c.195G>C (p.Ala65=) rs761734241 0.00001
NM_002439.5(MSH3):c.195G>T (p.Ala65=) rs761734241 0.00001
NM_002439.5(MSH3):c.209C>T (p.Ala70Val) rs1182862032 0.00001
NM_002439.5(MSH3):c.222G>A (p.Gln74=) rs1279149249 0.00001
NM_002439.5(MSH3):c.227C>T (p.Pro76Leu) rs1322965420 0.00001
NM_002439.5(MSH3):c.22T>C (p.Ser8Pro) rs1313510221 0.00001
NM_002439.5(MSH3):c.231G>T (p.Pro77=) rs1435823219 0.00001
NM_002439.5(MSH3):c.237+2T>C rs1480047980 0.00001
NM_002439.5(MSH3):c.237+3A>G rs745911924 0.00001
NM_002439.5(MSH3):c.237+4G>A rs1466149546 0.00001
NM_002439.5(MSH3):c.237+5G>T rs966078374 0.00001
NM_002439.5(MSH3):c.237A>G (p.Ile79Met) rs1473363268 0.00001
NM_002439.5(MSH3):c.24G>C (p.Ser8=) rs1320023097 0.00001
NM_002439.5(MSH3):c.49G>A (p.Ala17Thr) rs1176057750 0.00001
NM_002439.5(MSH3):c.5C>T (p.Ser2Phe) rs768844493 0.00001
NM_002439.5(MSH3):c.60G>T (p.Arg20Ser) rs1416287946 0.00001
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter) rs770190473 0.00001
NM_002439.5(MSH3):c.79T>G (p.Phe27Val) rs1465875645 0.00001
NM_002439.5(MSH3):c.91A>G (p.Thr31Ala) rs1212322787 0.00001
NM_002439.5(MSH3):c.93G>A (p.Thr31=) rs1271418564 0.00001
NM_002439.5(MSH3):c.98G>A (p.Ser33Asn) rs1489972731 0.00001
NM_000791.4(DHFR):c.-303G>T rs1749190564
NM_000791.4(DHFR):c.-397C>G
NM_000791.4(DHFR):c.-425G>A
NM_000791.4(DHFR):c.-437GGGGCGCTG[5] rs60484572
NM_002439.5(MSH3):c.-1C>T
NM_002439.5(MSH3):c.-1del
NM_002439.5(MSH3):c.-2C>A
NM_002439.5(MSH3):c.-2C>T
NM_002439.5(MSH3):c.-3G>T
NM_002439.5(MSH3):c.-4T>C
NM_002439.5(MSH3):c.-5C>G
NM_002439.5(MSH3):c.-5C>T
NM_002439.5(MSH3):c.100C>T (p.Leu34=) rs2112797274
NM_002439.5(MSH3):c.102G>A (p.Leu34=)
NM_002439.5(MSH3):c.102G>C (p.Leu34=) rs559669988
NM_002439.5(MSH3):c.105A>G (p.Lys35=)
NM_002439.5(MSH3):c.106T>C (p.Ser36Pro)
NM_002439.5(MSH3):c.107C>A (p.Ser36Tyr)
NM_002439.5(MSH3):c.108C>A (p.Ser36=)
NM_002439.5(MSH3):c.110C>A (p.Thr37Asn) rs759573423
NM_002439.5(MSH3):c.112TCC[2] (p.Ser40del) rs1049679865
NM_002439.5(MSH3):c.113C>T (p.Ser38Phe) rs1184865419
NM_002439.5(MSH3):c.115T>A (p.Ser39Thr) rs1580538013
NM_002439.5(MSH3):c.115T>G (p.Ser39Ala) rs1580538013
NM_002439.5(MSH3):c.116C>T (p.Ser39Phe) rs2112797345
NM_002439.5(MSH3):c.122C>G (p.Thr41Arg) rs763928973
NM_002439.5(MSH3):c.122C>T (p.Thr41Ile) rs763928973
NM_002439.5(MSH3):c.122del (p.Thr41fs)
NM_002439.5(MSH3):c.125G>A (p.Gly42Asp)
NM_002439.5(MSH3):c.126T>C (p.Gly42=) rs1580538076
NM_002439.5(MSH3):c.126T>G (p.Gly42=)
NM_002439.5(MSH3):c.127G>A (p.Ala43Thr) rs1351260483
NM_002439.5(MSH3):c.132C>A (p.Ala44=) rs749754328
NM_002439.5(MSH3):c.132C>G (p.Ala44=) rs749754328
NM_002439.5(MSH3):c.135C>A (p.Asp45Glu)
NM_002439.5(MSH3):c.135C>G (p.Asp45Glu)
NM_002439.5(MSH3):c.135C>T (p.Asp45=) rs972547684
NM_002439.5(MSH3):c.137A>G (p.Gln46Arg) rs748434336
NM_002439.5(MSH3):c.137A>T (p.Gln46Leu)
NM_002439.5(MSH3):c.138G>C (p.Gln46His) rs1749197468
NM_002439.5(MSH3):c.139_178del (p.Val47fs)
NM_002439.5(MSH3):c.144C>G (p.Asp48Glu) rs747024539
NM_002439.5(MSH3):c.145C>G (p.Pro49Ala) rs775307118
NM_002439.5(MSH3):c.146del (p.Pro49fs) rs1580538168
NM_002439.5(MSH3):c.147T>C (p.Pro49=) rs1450213881
NM_002439.5(MSH3):c.147T>G (p.Pro49=)
NM_002439.5(MSH3):c.147_154dup (p.Ala52fs)
NM_002439.5(MSH3):c.148G>A (p.Gly50Ser) rs1749198806
NM_002439.5(MSH3):c.149G>C (p.Gly50Ala)
NM_002439.5(MSH3):c.14A>T (p.Lys5Met) rs1275624430
NM_002439.5(MSH3):c.14del (p.Lys5fs) rs1749186228
NM_002439.5(MSH3):c.150C>A (p.Gly50=) rs774275160
NM_002439.5(MSH3):c.150C>T (p.Gly50=) rs774275160
NM_002439.5(MSH3):c.151G>A (p.Ala51Thr)
NM_002439.5(MSH3):c.152C>T (p.Ala51Val)
NM_002439.5(MSH3):c.153T>G (p.Ala51=)
NM_002439.5(MSH3):c.154G>A (p.Ala52Thr)
NM_002439.5(MSH3):c.155C>T (p.Ala52Val)
NM_002439.5(MSH3):c.156A>G (p.Ala52=) rs761607646
NM_002439.5(MSH3):c.156A>T (p.Ala52=)
NM_002439.5(MSH3):c.157G>A (p.Ala53Thr)
NM_002439.5(MSH3):c.157G>T (p.Ala53Ser)
NM_002439.5(MSH3):c.158C>A (p.Ala53Glu)
NM_002439.5(MSH3):c.15G>A (p.Lys5=)
NM_002439.5(MSH3):c.15G>T (p.Lys5Asn) rs563338833
NM_002439.5(MSH3):c.161C>G (p.Ala54Gly) rs767048342
NM_002439.5(MSH3):c.163G>A (p.Ala55Thr)
NM_002439.5(MSH3):c.164C>T (p.Ala55Val)
NM_002439.5(MSH3):c.165A>C (p.Ala55=)
NM_002439.5(MSH3):c.165A>G (p.Ala55=) rs2112797815
NM_002439.5(MSH3):c.165A>T (p.Ala55=)
NM_002439.5(MSH3):c.167C>A (p.Ala56Glu)
NM_002439.5(MSH3):c.171C>A (p.Ala57=)
NM_002439.5(MSH3):c.171C>G (p.Ala57=) rs201906899
NM_002439.5(MSH3):c.172G>A (p.Ala58Thr) rs148550291
NM_002439.5(MSH3):c.174A>C (p.Ala58=) rs2112797977
NM_002439.5(MSH3):c.174A>T (p.Ala58=)
NM_002439.5(MSH3):c.176C>G (p.Ala59Gly)
NM_002439.5(MSH3):c.177G>C (p.Ala59=) rs1464896652
NM_002439.5(MSH3):c.181G>A (p.Ala61Thr)
NM_002439.5(MSH3):c.182C>T (p.Ala61Val)
NM_002439.5(MSH3):c.183A>C (p.Ala61=)
NM_002439.5(MSH3):c.183A>T (p.Ala61=)
NM_002439.5(MSH3):c.183_209dup (p.Ala70_Phe71insAlaProProAlaProProAlaProAla)
NM_002439.5(MSH3):c.185C>T (p.Ala62Val) rs535056167
NM_002439.5(MSH3):c.188C>A (p.Pro63His)
NM_002439.5(MSH3):c.189C>G (p.Pro63=)
NM_002439.5(MSH3):c.189C>T (p.Pro63=) rs770922346
NM_002439.5(MSH3):c.192A>G (p.Pro64=)
NM_002439.5(MSH3):c.195G>A (p.Ala65=) rs761734241
NM_002439.5(MSH3):c.196C>T (p.Pro66Ser)
NM_002439.5(MSH3):c.197C>T (p.Pro66Leu)
NM_002439.5(MSH3):c.1A>G (p.Met1Val) rs775714088
NM_002439.5(MSH3):c.200C>G (p.Pro67Arg) rs1460806829
NM_002439.5(MSH3):c.201A>C (p.Pro67=)
NM_002439.5(MSH3):c.202G>C (p.Ala68Pro) rs1223470400
NM_002439.5(MSH3):c.203C>G (p.Ala68Gly)
NM_002439.5(MSH3):c.204T>C (p.Ala68=)
NM_002439.5(MSH3):c.204T>G (p.Ala68=)
NM_002439.5(MSH3):c.205C>G (p.Pro69Ala) rs577919981
NM_002439.5(MSH3):c.205_224del (p.Pro69fs)
NM_002439.5(MSH3):c.207C>A (p.Pro69=) rs1422622213
NM_002439.5(MSH3):c.207C>T (p.Pro69=) rs1422622213
NM_002439.5(MSH3):c.208G>A (p.Ala70Thr) rs765698219
NM_002439.5(MSH3):c.208G>C (p.Ala70Pro)
NM_002439.5(MSH3):c.210C>G (p.Ala70=) rs753160687
NM_002439.5(MSH3):c.211_218dup (p.Gln74fs)
NM_002439.5(MSH3):c.211_230dup (p.His78fs) rs1749219575
NM_002439.5(MSH3):c.213C>A (p.Phe71Leu)
NM_002439.5(MSH3):c.213C>G (p.Phe71Leu)
NM_002439.5(MSH3):c.214C>G (p.Pro72Ala) rs1749220995
NM_002439.5(MSH3):c.214C>T (p.Pro72Ser)
NM_002439.5(MSH3):c.215C>G (p.Pro72Arg)
NM_002439.5(MSH3):c.215C>T (p.Pro72Leu) rs1404800640
NM_002439.5(MSH3):c.215del (p.Pro72fs)
NM_002439.5(MSH3):c.217C>T (p.Pro73Ser) rs1395956642
NM_002439.5(MSH3):c.218C>A (p.Pro73His) rs1580538949
NM_002439.5(MSH3):c.218C>G (p.Pro73Arg) rs1580538949
NM_002439.5(MSH3):c.219C>G (p.Pro73=) rs778136308
NM_002439.5(MSH3):c.219_230dup (p.Pro77_His78insGlnLeuProPro)
NM_002439.5(MSH3):c.220C>T (p.Gln74Ter)
NM_002439.5(MSH3):c.221A>T (p.Gln74Leu)
NM_002439.5(MSH3):c.222G>C (p.Gln74His) rs1279149249
NM_002439.5(MSH3):c.224T>C (p.Leu75Pro) rs1561429373
NM_002439.5(MSH3):c.225G>A (p.Leu75=) rs757491337
NM_002439.5(MSH3):c.225G>C (p.Leu75=)
NM_002439.5(MSH3):c.226C>T (p.Pro76Ser) rs1261331525
NM_002439.5(MSH3):c.227C>A (p.Pro76Gln)
NM_002439.5(MSH3):c.227C>G (p.Pro76Arg) rs1322965420
NM_002439.5(MSH3):c.227CGC[3] (p.Pro77dup) rs1490449810
NM_002439.5(MSH3):c.229C>G (p.Pro77Ala)
NM_002439.5(MSH3):c.229C>T (p.Pro77Ser) rs1200938359
NM_002439.5(MSH3):c.22T>A (p.Ser8Thr) rs1313510221
NM_002439.5(MSH3):c.230C>A (p.Pro77Gln)
NM_002439.5(MSH3):c.230C>G (p.Pro77Arg)
NM_002439.5(MSH3):c.230C>T (p.Pro77Leu) rs1258205404
NM_002439.5(MSH3):c.232C>T (p.His78Tyr) rs1313363087
NM_002439.5(MSH3):c.233A>C (p.His78Pro)
NM_002439.5(MSH3):c.233_235delinsCCG (p.His78_Ile79delinsProVal)
NM_002439.5(MSH3):c.234C>A (p.His78Gln)
NM_002439.5(MSH3):c.234C>G (p.His78Gln) rs1416322705
NM_002439.5(MSH3):c.234C>T (p.His78=)
NM_002439.5(MSH3):c.234_235delinsAG (p.His78_Ile79delinsGlnVal) rs1749224177
NM_002439.5(MSH3):c.234_235inv (p.Ile79Val)
NM_002439.5(MSH3):c.235A>C (p.Ile79Leu) rs1650697
NM_002439.5(MSH3):c.235_236delinsGC (p.Ile79Ala)
NM_002439.5(MSH3):c.236T>A (p.Ile79Lys)
NM_002439.5(MSH3):c.236T>C (p.Ile79Thr) rs2112798762
NM_002439.5(MSH3):c.236T>G (p.Ile79Arg)
NM_002439.5(MSH3):c.237+1G>A
NM_002439.5(MSH3):c.237+3A>C rs745911924
NM_002439.5(MSH3):c.237+4G>C
NM_002439.5(MSH3):c.237+5G>A rs966078374
NM_002439.5(MSH3):c.24G>A (p.Ser8=) rs1320023097
NM_002439.5(MSH3):c.26G>C (p.Gly9Ala) rs369278563
NM_002439.5(MSH3):c.27C>G (p.Gly9=)
NM_002439.5(MSH3):c.28G>C (p.Gly10Arg) rs2112796965
NM_002439.5(MSH3):c.29G>C (p.Gly10Ala) rs1580537703
NM_002439.5(MSH3):c.2T>C (p.Met1Thr) rs543854925
NM_002439.5(MSH3):c.31C>G (p.Leu11Val) rs372442835
NM_002439.5(MSH3):c.34G>T (p.Ala12Ser) rs1580537725
NM_002439.5(MSH3):c.35C>G (p.Ala12Gly)
NM_002439.5(MSH3):c.35C>T (p.Ala12Val) rs969715234
NM_002439.5(MSH3):c.36T>A (p.Ala12=)
NM_002439.5(MSH3):c.36T>C (p.Ala12=) rs1749188879
NM_002439.5(MSH3):c.37G>A (p.Ala13Thr)
NM_002439.5(MSH3):c.38C>A (p.Ala13Asp) rs756843242
NM_002439.5(MSH3):c.39C>T (p.Ala13=)
NM_002439.5(MSH3):c.3G>A (p.Met1Ile)
NM_002439.5(MSH3):c.40_42dup (p.Ser16dup) rs1254174829
NM_002439.5(MSH3):c.42C>T (p.Ser14=)
NM_002439.5(MSH3):c.46T>A (p.Ser16Thr)
NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)
NM_002439.5(MSH3):c.48A>T (p.Ser16=) rs976119718
NM_002439.5(MSH3):c.50C>T (p.Ala17Val) rs1749189749
NM_002439.5(MSH3):c.53C>G (p.Pro18Arg) rs1749189883
NM_002439.5(MSH3):c.56C>G (p.Ala19Gly) rs780785898
NM_002439.5(MSH3):c.57G>A (p.Ala19=) rs1447333327
NM_002439.5(MSH3):c.57del (p.Arg20fs)
NM_002439.5(MSH3):c.58A>G (p.Arg20Gly)
NM_002439.5(MSH3):c.59G>A (p.Arg20Lys) rs1580537787
NM_002439.5(MSH3):c.59G>T (p.Arg20Met)
NM_002439.5(MSH3):c.60G>A (p.Arg20=) rs1416287946
NM_002439.5(MSH3):c.63A>G (p.Gln21=) rs1168176656
NM_002439.5(MSH3):c.66G>A (p.Ala22=) rs1580537815
NM_002439.5(MSH3):c.67G>A (p.Val23Ile) rs1353893324
NM_002439.5(MSH3):c.68T>C (p.Val23Ala)
NM_002439.5(MSH3):c.77G>A (p.Arg26Gln) rs780517196
NM_002439.5(MSH3):c.7C>G (p.Arg3Gly)
NM_002439.5(MSH3):c.7C>T (p.Arg3Cys) rs774455792
NM_002439.5(MSH3):c.86A>C (p.Gln29Pro)
NM_002439.5(MSH3):c.87G>T (p.Gln29His) rs768967342
NM_002439.5(MSH3):c.88T>A (p.Ser30Thr)
NM_002439.5(MSH3):c.88T>C (p.Ser30Pro) rs1749192322
NM_002439.5(MSH3):c.88T>G (p.Ser30Ala) rs1749192322
NM_002439.5(MSH3):c.89C>G (p.Ser30Cys)
NM_002439.5(MSH3):c.8G>A (p.Arg3His) rs1391784097
NM_002439.5(MSH3):c.91A>C (p.Thr31Pro)
NM_002439.5(MSH3):c.93G>C (p.Thr31=)
NM_002439.5(MSH3):c.94G>A (p.Gly32Arg) rs2112797247
NM_002439.5(MSH3):c.97A>C (p.Ser33Arg) rs772142059
NM_002439.5(MSH3):c.97A>G (p.Ser33Gly) rs772142059

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