ClinVar Miner

List of variants in gene MSH2 reported as likely benign for 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP
NM_000251.2(MSH2):c.1014A>C (p.Gly338=) rs774083607
NM_000251.2(MSH2):c.1032G>A (p.Gln344=) rs375799148
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1077-7A>G rs370807334
NM_000251.2(MSH2):c.108T>G (p.Leu36=) rs876659034
NM_000251.2(MSH2):c.1117A>C (p.Arg373=) rs781061998
NM_000251.2(MSH2):c.1131A>G (p.Gln377=) rs181852377
NM_000251.2(MSH2):c.1179G>A (p.Lys393=) rs1553356646
NM_000251.2(MSH2):c.1191A>G (p.Gln397=) rs768694189
NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) rs146567853
NM_000251.2(MSH2):c.1221C>G (p.Leu407=) rs63750813
NM_000251.2(MSH2):c.123C>T (p.Asp41=) rs761960690
NM_000251.2(MSH2):c.1240C>T (p.Leu414=) rs908316909
NM_000251.2(MSH2):c.1251T>C (p.Val417=) rs1553356731
NM_000251.2(MSH2):c.1276+7A>G rs748554540
NM_000251.2(MSH2):c.1277-7C>A rs375437307
NM_000251.2(MSH2):c.1294T>C (p.Leu432=) rs937218360
NM_000251.2(MSH2):c.12G>A (p.Gln4=) rs878853800
NM_000251.2(MSH2):c.1311G>T (p.Val437=) rs730881781
NM_000251.2(MSH2):c.1314T>C (p.Thr438=) rs761558457
NM_000251.2(MSH2):c.1341C>T (p.Phe447=) rs587781373
NM_000251.2(MSH2):c.1344C>T (p.Ser448=) rs1010360604
NM_000251.2(MSH2):c.1387-4G>C rs376796243
NM_000251.2(MSH2):c.1440A>G (p.Glu480=) rs138049198
NM_000251.2(MSH2):c.1497A>G (p.Ala499=) rs1357985821
NM_000251.2(MSH2):c.1510+9G>A rs780895577
NM_000251.2(MSH2):c.1513T>C (p.Leu505=) rs1553366502
NM_000251.2(MSH2):c.1527A>G (p.Lys509=) rs1212558633
NM_000251.2(MSH2):c.1530G>A (p.Gln510=) rs587782355
NM_000251.2(MSH2):c.1539G>A (p.Leu513=) rs777195739
NM_000251.2(MSH2):c.1545C>T (p.Ser515=) rs1553366537
NM_000251.2(MSH2):c.154C>T (p.Leu52=) rs786202335
NM_000251.2(MSH2):c.1578C>G (p.Thr526=) rs1057520435
NM_000251.2(MSH2):c.159C>T (p.Ala53=) rs780178752
NM_000251.2(MSH2):c.1605C>T (p.Asn535=) rs587779098
NM_000251.2(MSH2):c.1626A>G (p.Val542=) rs1553366635
NM_000251.2(MSH2):c.162C>T (p.Ala54=) rs1045377929
NM_000251.2(MSH2):c.1638G>A (p.Lys546=) rs372350768
NM_000251.2(MSH2):c.1647T>C (p.Val549=) rs763525239
NM_000251.2(MSH2):c.1661+6dupC rs863224832
NM_000251.2(MSH2):c.1661+7A>C rs753508952
NM_000251.2(MSH2):c.1662-10C>T rs752606387
NM_000251.2(MSH2):c.1689T>C (p.Tyr563=) rs1553367626
NM_000251.2(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.2(MSH2):c.1692C>G (p.Thr564=) rs786203290
NM_000251.2(MSH2):c.1719C>T (p.Ala573=) rs1553367674
NM_000251.2(MSH2):c.1746C>T (p.Val582=) rs786201486
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.174C>T (p.Phe58=) rs372189599
NM_000251.2(MSH2):c.1759+10A>G rs1553367706
NM_000251.2(MSH2):c.1759+9A>C rs994093288
NM_000251.2(MSH2):c.1760-7T>C rs972129356
NM_000251.2(MSH2):c.1764T>C (p.Tyr588=) rs63750844
NM_000251.2(MSH2):c.1773A>G (p.Pro591=) rs786203894
NM_000251.2(MSH2):c.1830C>T (p.His610=) rs766326295
NM_000251.2(MSH2):c.1842A>C (p.Gly614=) rs923770168
NM_000251.2(MSH2):c.1863A>T (p.Arg621=) rs786203119
NM_000251.2(MSH2):c.1869C>T (p.Ala623=) rs1553368623
NM_000251.2(MSH2):c.186G>A (p.Gly62=) rs750058876
NM_000251.2(MSH2):c.186G>C (p.Gly62=) rs750058876
NM_000251.2(MSH2):c.1884A>G (p.Gly628=) rs786202663
NM_000251.2(MSH2):c.18G>A (p.Lys6=) rs146017810
NM_000251.2(MSH2):c.1914G>A (p.Arg638=) rs1177447151
NM_000251.2(MSH2):c.1938T>C (p.Asp646=) rs775484022
NM_000251.2(MSH2):c.1962C>T (p.Asp654=) rs751939698
NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) rs549467183
NM_000251.2(MSH2):c.1965A>C (p.Val655=) rs767941059
NM_000251.2(MSH2):c.1986G>A (p.Gln662=) rs587780685
NM_000251.2(MSH2):c.198C>T (p.Tyr66=) rs730881784
NM_000251.2(MSH2):c.2006-4G>A rs369853630
NM_000251.2(MSH2):c.2006-9G>A rs985337130
NM_000251.2(MSH2):c.2010C>T (p.Pro670=) rs766618212
NM_000251.2(MSH2):c.2028A>C (p.Ser676=) rs1057522032
NM_000251.2(MSH2):c.2031A>G (p.Thr677=) rs786203923
NM_000251.2(MSH2):c.2043A>G (p.Gln681=) rs730881763
NM_000251.2(MSH2):c.2061C>G (p.Leu687=) rs63750032
NM_000251.2(MSH2):c.2067C>G (p.Ala689=) rs1039052221
NM_000251.2(MSH2):c.2067C>T (p.Ala689=) rs1039052221
NM_000251.2(MSH2):c.2082T>C (p.Phe694=) rs748210094
NM_000251.2(MSH2):c.2094G>A (p.Glu698=) rs773555449
NM_000251.2(MSH2):c.2100A>G (p.Ala700=) rs771426077
NM_000251.2(MSH2):c.211+8C>T rs267607916
NM_000251.2(MSH2):c.211+9C>A rs2303426
NM_000251.2(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409
NM_000251.2(MSH2):c.2136A>G (p.Val712=) rs1553369157
NM_000251.2(MSH2):c.2139G>T (p.Gly713=) rs63750003
NM_000251.2(MSH2):c.2166C>G (p.Val722=) rs1057520969
NM_000251.2(MSH2):c.2172G>A (p.Thr724=) rs370636719
NM_000251.2(MSH2):c.2172G>T (p.Thr724=) rs370636719
NM_000251.2(MSH2):c.2181T>C (p.Ala727=) rs763387694
NM_000251.2(MSH2):c.2190G>A (p.Leu730=) rs864622370
NM_000251.2(MSH2):c.2208C>T (p.Leu736=) rs541880457
NM_000251.2(MSH2):c.2210+7G>A rs374675118
NM_000251.2(MSH2):c.2210+7G>T rs374675118
NM_000251.2(MSH2):c.2210+8C>T rs778020437
NM_000251.2(MSH2):c.2211-5T>G rs368596736
NM_000251.2(MSH2):c.2211-6C>A rs267608003
NM_000251.2(MSH2):c.2211-7G>A rs764972956
NM_000251.2(MSH2):c.2247A>G (p.Glu749=) rs1553369670
NM_000251.2(MSH2):c.2248T>C (p.Leu750=) rs527725593
NM_000251.2(MSH2):c.2271C>T (p.Tyr757=) rs56076152
NM_000251.2(MSH2):c.2343A>C (p.Ala781=) rs1057523777
NM_000251.2(MSH2):c.2367C>T (p.Ala789=) rs786202414
NM_000251.2(MSH2):c.237G>T (p.Val79=) rs786202203
NM_000251.2(MSH2):c.2397T>C (p.Asn799=) rs368988823
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.2412A>G (p.Ala804=) rs141523959
NM_000251.2(MSH2):c.2458+8C>G rs189025757
NM_000251.2(MSH2):c.2459-5T>A rs1060504417
NM_000251.2(MSH2):c.2459-9T>C rs776644342
NM_000251.2(MSH2):c.2503A>C (p.Asn835His) rs41295296
NM_000251.2(MSH2):c.2508C>T (p.Phe836=) rs965790911
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.2574A>G (p.Gly858=) rs1553370416
NM_000251.2(MSH2):c.2580G>A (p.Ser860=) rs752428475
NM_000251.2(MSH2):c.2580G>T (p.Ser860=) rs752428475
NM_000251.2(MSH2):c.2595C>T (p.Ile865=) rs547695133
NM_000251.2(MSH2):c.2607A>G (p.Ala869=) rs876658574
NM_000251.2(MSH2):c.2634+7C>G rs905179122
NM_000251.2(MSH2):c.2667C>G (p.Ser889=) rs561680100
NM_000251.2(MSH2):c.267A>G (p.Val89=) rs876658718
NM_000251.2(MSH2):c.2691T>C (p.Thr897=) rs148653184
NM_000251.2(MSH2):c.2714C>T (p.Thr905Ile) rs267608022
NM_000251.2(MSH2):c.2757T>C (p.Asn919=) rs1354355913
NM_000251.2(MSH2):c.279_281delTCT (p.Leu94del) rs267607919
NM_000251.2(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.2(MSH2):c.2804G>A (p.Ter935=) rs876658335
NM_000251.2(MSH2):c.285T>C (p.Val95=) rs1369335343
NM_000251.2(MSH2):c.287G>A (p.Arg96His) rs63750002
NM_000251.2(MSH2):c.291G>A (p.Gln97=) rs1064794792
NM_000251.2(MSH2):c.312G>A (p.Lys104=) rs372972328
NM_000251.2(MSH2):c.315T>C (p.Asn105=) rs746066632
NM_000251.2(MSH2):c.317G>A (p.Arg106Lys) rs41295286
NM_000251.2(MSH2):c.327T>C (p.Asn109=) rs63751437
NM_000251.2(MSH2):c.336C>A (p.Ser112=) rs34312619
NM_000251.2(MSH2):c.366+9C>T rs1553350269
NM_000251.2(MSH2):c.367-6A>G rs769501299
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.399C>T (p.Asp133=) rs61756462
NM_000251.2(MSH2):c.426A>G (p.Ser142=) rs937438549
NM_000251.2(MSH2):c.42G>A (p.Ala14=) rs374396150
NM_000251.2(MSH2):c.438T>C (p.Gly146=) rs587779161
NM_000251.2(MSH2):c.459C>T (p.Ser153=) rs63751065
NM_000251.2(MSH2):c.462A>C (p.Ala154=) rs1553350740
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.501T>C (p.Asp167=) rs757733033
NM_000251.2(MSH2):c.504C>T (p.Ser168=) rs1200735883
NM_000251.2(MSH2):c.516A>G (p.Lys172=) rs1553350796
NM_000251.2(MSH2):c.519A>G (p.Leu173=) rs1553350805
NM_000251.2(MSH2):c.525G>A (p.Leu175=) rs771827041
NM_000251.2(MSH2):c.540T>C (p.Asp180=) rs1553350845
NM_000251.2(MSH2):c.54C>T (p.Gly18=) rs63750777
NM_000251.2(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.2(MSH2):c.588A>C (p.Pro196=) rs1553350915
NM_000251.2(MSH2):c.594A>G (p.Glu198=) rs369685768
NM_000251.2(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.2(MSH2):c.606C>T (p.Pro202=) rs63750600
NM_000251.2(MSH2):c.624A>C (p.Gly208=) rs786202651
NM_000251.2(MSH2):c.639G>A (p.Leu213=) rs751250018
NM_000251.2(MSH2):c.642A>G (p.Arg214=) rs768931909
NM_000251.2(MSH2):c.645+8A>G rs140217708
NM_000251.2(MSH2):c.646-4dup rs1553351541
NM_000251.2(MSH2):c.646-8delC rs878853820
NM_000251.2(MSH2):c.663A>G (p.Gly221=) rs1553351570
NM_000251.2(MSH2):c.669G>A (p.Leu223=) rs751195930
NM_000251.2(MSH2):c.693C>T (p.Asp231=) rs541325199
NM_000251.2(MSH2):c.699C>A (p.Ser233=) rs1403583908
NM_000251.2(MSH2):c.6G>C (p.Ala2=) rs368270856
NM_000251.2(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000251.2(MSH2):c.714T>C (p.Tyr238=) rs369670665
NM_000251.2(MSH2):c.741C>G (p.Gly247=) rs747321505
NM_000251.2(MSH2):c.762T>C (p.Asn254=) rs587779180
NM_000251.2(MSH2):c.795T>G (p.Val265=) rs63749903
NM_000251.2(MSH2):c.813T>C (p.Ser271=) rs1057523559
NM_000251.2(MSH2):c.81G>A (p.Pro27=) rs1553348766
NM_000251.2(MSH2):c.838T>C (p.Leu280=) rs1553352449
NM_000251.2(MSH2):c.843A>T (p.Ser281=) rs150197753
NM_000251.2(MSH2):c.849T>C (p.Asp283=) rs876659344
NM_000251.2(MSH2):c.867T>C (p.Phe289=) rs863224342
NM_000251.2(MSH2):c.885C>T (p.Asp295=) rs201334592
NM_000251.2(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000251.2(MSH2):c.915A>C (p.Ala305=) rs757483245
NM_000251.2(MSH2):c.939T>C (p.Phe313=) rs970103452
NM_000251.2(MSH2):c.943-4C>T rs1432053166
NM_000251.2(MSH2):c.943-6T>C rs768644134
NM_000251.2(MSH2):c.948T>C (p.Ser316=) rs1553353102
NM_000251.2(MSH2):c.951T>A (p.Val317=) rs1553353105
NM_000251.2(MSH2):c.960C>G (p.Thr320=) rs1214000485
NM_000251.2(MSH2):c.976C>T (p.Leu326=) rs1237931528
NM_000251.2(MSH2):c.996G>A (p.Lys332=) rs863224343

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