ClinVar Miner

List of variants in gene MBD5 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP
GRCh37/hg19 2q23.1(chr2:148957572-149027461)x1
NM_018328.4(MBD5):c.*12C>A rs755460512
NM_018328.4(MBD5):c.-556-8T>C rs140968376
NM_018328.4(MBD5):c.-557+6C>A rs1553503044
NM_018328.4(MBD5):c.-660A>C rs888498386
NM_018328.4(MBD5):c.-663C>T rs748989182
NM_018328.4(MBD5):c.-693A>G rs1057523808
NM_018328.4(MBD5):c.-826A>G rs1050579064
NM_018328.4(MBD5):c.-831+9dup rs796052705
NM_018328.4(MBD5):c.-924-3T>C
NM_018328.4(MBD5):c.-925+18G>A rs1057522564
NM_018328.4(MBD5):c.-933G>A rs992673818
NM_018328.4(MBD5):c.102G>T (p.Val34=) rs1057522320
NM_018328.4(MBD5):c.1039C>T (p.Gln347Ter) rs1559086213
NM_018328.4(MBD5):c.1055C>T (p.Thr352Ile) rs145808884
NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu) rs536900412
NM_018328.4(MBD5):c.1114_1115dup (p.Asn372fs) rs1553518527
NM_018328.4(MBD5):c.113+14A>G
NM_018328.4(MBD5):c.113+166_113+167insG
NM_018328.4(MBD5):c.113+221A>G
NM_018328.4(MBD5):c.113+4A>G rs201821636
NM_018328.4(MBD5):c.114-16dup rs758376752
NM_018328.4(MBD5):c.1141T>C (p.Phe381Leu) rs768570356
NM_018328.4(MBD5):c.1232C>T (p.Thr411Ile) rs535000990
NM_018328.4(MBD5):c.1234G>A (p.Val412Ile) rs761118931
NM_018328.4(MBD5):c.1269A>T (p.Val423=) rs746576866
NM_018328.4(MBD5):c.1327G>T (p.Val443Leu) rs137977565
NM_018328.4(MBD5):c.1368G>T (p.Ser456=) rs146020786
NM_018328.4(MBD5):c.1382G>A (p.Arg461His) rs139964770
NM_018328.4(MBD5):c.1417A>G (p.Met473Val) rs1064796951
NM_018328.4(MBD5):c.1419G>A (p.Met473Ile) rs1057524543
NM_018328.4(MBD5):c.1449T>C (p.Ser483=) rs777754350
NM_018328.4(MBD5):c.1470_1478del (p.490_492PRS[1]) rs1553518587
NM_018328.4(MBD5):c.1489A>G (p.Ile497Val) rs771672174
NM_018328.4(MBD5):c.1535C>T (p.Ser512Phe) rs201695275
NM_018328.4(MBD5):c.1536C>T (p.Ser512=) rs147908860
NM_018328.4(MBD5):c.1549C>T (p.Gln517Ter) rs1553518593
NM_018328.4(MBD5):c.1591A>G (p.Asn531Asp) rs757922781
NM_018328.4(MBD5):c.1596A>G (p.Val532=) rs114611333
NM_018328.4(MBD5):c.1635T>A (p.Ser545=) rs1057522805
NM_018328.4(MBD5):c.1638C>T (p.Ala546=) rs116413446
NM_018328.4(MBD5):c.1759C>T (p.Gln587Ter) rs1559087186
NM_018328.4(MBD5):c.1762C>T (p.Leu588=) rs1057522502
NM_018328.4(MBD5):c.1803C>T (p.Ser601=) rs772321704
NM_018328.4(MBD5):c.1811del (p.Asn604fs) rs1057518567
NM_018328.4(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_018328.4(MBD5):c.1961A>T (p.Asp654Val) rs115495710
NM_018328.4(MBD5):c.1962C>T (p.Asp654=) rs139953766
NM_018328.4(MBD5):c.1963G>A (p.Ala655Thr) rs576930680
NM_018328.4(MBD5):c.1987C>T (p.Pro663Ser) rs1057520996
NM_018328.4(MBD5):c.1999T>A (p.Leu667Met) rs529715710
NM_018328.4(MBD5):c.1999T>C (p.Leu667=) rs529715710
NM_018328.4(MBD5):c.19T>A (p.Cys7Ser) rs766104877
NM_018328.4(MBD5):c.2000T>G (p.Leu667Trp) rs796052711
NM_018328.4(MBD5):c.2025_2028del (p.Met675fs) rs1131691713
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.205A>G (p.Ile69Val) rs749163361
NM_018328.4(MBD5):c.2122A>G (p.Met708Val) rs796052721
NM_018328.4(MBD5):c.2122A>T (p.Met708Leu) rs796052721
NM_018328.4(MBD5):c.2127T>C (p.Ser709=) rs763873615
NM_018328.4(MBD5):c.216+15A>G rs759004187
NM_018328.4(MBD5):c.2162C>T (p.Pro721Leu) rs138639760
NM_018328.4(MBD5):c.217-16G>C rs377517776
NM_018328.4(MBD5):c.2196C>G (p.Cys732Trp) rs748328427
NM_018328.4(MBD5):c.2213A>G (p.His738Arg) rs528789050
NM_018328.4(MBD5):c.2254A>G (p.Ile752Val) rs147455836
NM_018328.4(MBD5):c.2257C>A (p.Pro753Thr) rs370340010
NM_018328.4(MBD5):c.2274C>T (p.Ala758=) rs374820728
NM_018328.4(MBD5):c.2311A>G (p.Ser771Gly) rs777686665
NM_018328.4(MBD5):c.2314A>C (p.Asn772His) rs200151142
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.2399G>A (p.Gly800Asp) rs201668347
NM_018328.4(MBD5):c.2413A>C (p.Asn805His) rs796052712
NM_018328.4(MBD5):c.2431C>A (p.Pro811Thr) rs796052713
NM_018328.4(MBD5):c.2437C>T (p.Gln813Ter) rs1057524832
NM_018328.4(MBD5):c.2454G>A (p.Thr818=) rs769275989
NM_018328.4(MBD5):c.2498A>T (p.Asn833Ile) rs1131691751
NM_018328.4(MBD5):c.2502A>C (p.Gln834His) rs147272790
NM_018328.4(MBD5):c.2511T>A (p.Ser837=) rs1553518827
NM_018328.4(MBD5):c.2518+4T>C rs1553518830
NM_018328.4(MBD5):c.2519-18T>G rs555177897
NM_018328.4(MBD5):c.2519-19T>G rs200810831
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_018328.4(MBD5):c.2632C>A (p.Pro878Thr) rs752535474
NM_018328.4(MBD5):c.2632C>G (p.Pro878Ala) rs752535474
NM_018328.4(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_018328.4(MBD5):c.2751C>G (p.Ser917Arg)
NM_018328.4(MBD5):c.276A>G (p.Ala92=) rs141855494
NM_018328.4(MBD5):c.2828A>G (p.Gln943Arg) rs377062993
NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu) rs114359726
NM_018328.4(MBD5):c.2845+58C>A
NM_018328.4(MBD5):c.2846-10C>G
NM_018328.4(MBD5):c.2870C>A (p.Thr957Asn) rs774999439
NM_018328.4(MBD5):c.2898A>G (p.Leu966=) rs968871300
NM_018328.4(MBD5):c.2903C>T (p.Ser968Leu) rs200985982
NM_018328.4(MBD5):c.2904G>A (p.Ser968=) rs138058889
NM_018328.4(MBD5):c.2970G>A (p.Gln990=) rs143854410
NM_018328.4(MBD5):c.2978A>C (p.Gln993Pro) rs761395486
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.297A>G (p.Leu99=) rs77213206
NM_018328.4(MBD5):c.2981C>T (p.Ala994Val) rs773522192
NM_018328.4(MBD5):c.2982G>A (p.Ala994=) rs572893308
NM_018328.4(MBD5):c.2991A>G (p.Gly997=) rs139379552
NM_018328.4(MBD5):c.3032C>A (p.Ala1011Asp) rs1057522910
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3054+15T>A rs1057524750
NM_018328.4(MBD5):c.3055-9T>C rs370173652
NM_018328.4(MBD5):c.3067G>T (p.Glu1023Ter) rs1064796473
NM_018328.4(MBD5):c.3072T>C (p.Asp1024=)
NM_018328.4(MBD5):c.3087C>G (p.Asn1029Lys) rs771343592
NM_018328.4(MBD5):c.3138C>T (p.Asn1046=) rs772658882
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018328.4(MBD5):c.3148C>G (p.Pro1050Ala) rs764468729
NM_018328.4(MBD5):c.3152C>T (p.Pro1051Leu) rs761872951
NM_018328.4(MBD5):c.3205C>A (p.Gln1069Lys) rs796052715
NM_018328.4(MBD5):c.3225C>T (p.Leu1075=) rs146096552
NM_018328.4(MBD5):c.3243T>A (p.Gly1081=) rs115816749
NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) rs199626531
NM_018328.4(MBD5):c.327G>A (p.Val109=) rs760258675
NM_018328.4(MBD5):c.328G>A (p.Ala110Thr) rs1265044011
NM_018328.4(MBD5):c.3310A>G (p.Ile1104Val) rs115940994
NM_018328.4(MBD5):c.3348C>T (p.Pro1116=) rs367766748
NM_018328.4(MBD5):c.3355G>T (p.Ala1119Ser) rs373177231
NM_018328.4(MBD5):c.3361A>G (p.Ser1121Gly) rs796052717
NM_018328.4(MBD5):c.3367A>G (p.Met1123Val) rs1057518375
NM_018328.4(MBD5):c.3376T>C (p.Phe1126Leu) rs796052718
NM_018328.4(MBD5):c.3385T>C (p.Ser1129Pro) rs200395037
NM_018328.4(MBD5):c.3389T>C (p.Ile1130Thr) rs748142226
NM_018328.4(MBD5):c.3422G>A (p.Ser1141Asn) rs763106823
NM_018328.4(MBD5):c.3439C>T (p.Arg1147Trp) rs142293829
NM_018328.4(MBD5):c.3440G>A (p.Arg1147Gln) rs368605084
NM_018328.4(MBD5):c.3483A>G (p.Ser1161=) rs775314520
NM_018328.4(MBD5):c.3490G>A (p.Ala1164Thr) rs534413662
NM_018328.4(MBD5):c.3493C>T (p.Arg1165Trp) rs558876535
NM_018328.4(MBD5):c.3500C>T (p.Pro1167Leu) rs1057522316
NM_018328.4(MBD5):c.3519G>A (p.Gly1173=) rs1014000010
NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) rs752035001
NM_018328.4(MBD5):c.354C>T (p.Ala118=) rs1385280226
NM_018328.4(MBD5):c.3595G>A (p.Gly1199Arg) rs201334086
NM_018328.4(MBD5):c.3619C>T (p.Arg1207Ter) rs978179634
NM_018328.4(MBD5):c.361_362del (p.Pro121fs) rs1553517973
NM_018328.4(MBD5):c.3620G>A (p.Arg1207Gln) rs139042949
NM_018328.4(MBD5):c.3699dup (p.Val1234fs) rs1553520585
NM_018328.4(MBD5):c.3702C>G (p.Val1234=) rs144957555
NM_018328.4(MBD5):c.3702C>T (p.Val1234=) rs144957555
NM_018328.4(MBD5):c.3756A>C (p.Arg1252Ser) rs747940875
NM_018328.4(MBD5):c.3767G>A (p.Gly1256Glu) rs773267074
NM_018328.4(MBD5):c.3857G>A (p.Arg1286Lys) rs1057518363
NM_018328.4(MBD5):c.3891G>A (p.Gln1297=) rs1057521419
NM_018328.4(MBD5):c.3892A>C (p.Ser1298Arg) rs781154198
NM_018328.4(MBD5):c.3896G>A (p.Arg1299Gln) rs35934694
NM_018328.4(MBD5):c.3927G>A (p.Lys1309=) rs1467670256
NM_018328.4(MBD5):c.3930A>G (p.Gln1310=) rs115145637
NM_018328.4(MBD5):c.397+20G>A rs201763502
NM_018328.4(MBD5):c.398-12C>T rs556768118
NM_018328.4(MBD5):c.3999C>A (p.Tyr1333Ter) rs1553520624
NM_018328.4(MBD5):c.4032C>T (p.Ser1344=) rs777735514
NM_018328.4(MBD5):c.4033G>A (p.Val1345Ile) rs376249586
NM_018328.4(MBD5):c.4038T>C (p.Asn1346=) rs147744781
NM_018328.4(MBD5):c.4050T>C (p.Pro1350=) rs1057523104
NM_018328.4(MBD5):c.409G>A (p.Val137Ile) rs752962199
NM_018328.4(MBD5):c.4138C>T (p.Pro1380Ser) rs773779478
NM_018328.4(MBD5):c.4188G>A (p.Leu1396=) rs779662045
NM_018328.4(MBD5):c.4221C>T (p.Asp1407=) rs768363712
NM_018328.4(MBD5):c.422G>A (p.Arg141Gln) rs200245855
NM_018328.4(MBD5):c.4230C>T (p.His1410=) rs773406626
NM_018328.4(MBD5):c.4236A>C (p.Ser1412=) rs149419174
NM_018328.4(MBD5):c.4252G>A (p.Glu1418Lys) rs577955398
NM_018328.4(MBD5):c.4263+16T>G rs760744123
NM_018328.4(MBD5):c.4263+250A>C
NM_018328.4(MBD5):c.4264-11C>T rs147291009
NM_018328.4(MBD5):c.4264-56G>A
NM_018328.4(MBD5):c.4264-57C>T
NM_018328.4(MBD5):c.4296A>G (p.Glu1432=) rs1057521520
NM_018328.4(MBD5):c.4311C>T (p.Tyr1437=) rs1057523158
NM_018328.4(MBD5):c.4316G>A (p.Arg1439His) rs150519311
NM_018328.4(MBD5):c.4322G>A (p.Arg1441Gln) rs750291645
NM_018328.4(MBD5):c.4338-198dup
NM_018328.4(MBD5):c.4398C>T (p.Asp1466=) rs755570293
NM_018328.4(MBD5):c.4405T>C (p.Ser1469Pro) rs1131691294
NM_018328.4(MBD5):c.4408G>A (p.Gly1470Arg) rs1057523369
NM_018328.4(MBD5):c.440C>G (p.Ser147Ter) rs886041003
NM_018328.4(MBD5):c.4410G>T (p.Gly1470=) rs144358466
NM_018328.4(MBD5):c.4458A>T (p.Lys1486Asn) rs1553523408
NM_018328.4(MBD5):c.4464G>A (p.Lys1488=) rs1057522299
NM_018328.4(MBD5):c.46C>A (p.Leu16Ile) rs749436847
NM_018328.4(MBD5):c.471A>G (p.Thr157=) rs138433455
NM_018328.4(MBD5):c.488A>G (p.Glu163Gly) rs796052706
NM_018328.4(MBD5):c.520T>A (p.Ser174Thr) rs773716719
NM_018328.4(MBD5):c.546T>G (p.Tyr182Ter) rs1559085550
NM_018328.4(MBD5):c.558G>T (p.Leu186=) rs1553518428
NM_018328.4(MBD5):c.573A>G (p.Gln191=) rs188689135
NM_018328.4(MBD5):c.588T>C (p.Pro196=) rs373675091
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_018328.4(MBD5):c.601C>T (p.Gln201Ter) rs200287454
NM_018328.4(MBD5):c.60A>G (p.Gln20=) rs1057522537
NM_018328.4(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_018328.4(MBD5):c.675G>A (p.Ala225=) rs775582219
NM_018328.4(MBD5):c.678A>T (p.Ser226=) rs1057523021
NM_018328.4(MBD5):c.688C>T (p.Gln230Ter) rs1085307859
NM_018328.4(MBD5):c.692T>C (p.Ile231Thr) rs199530726
NM_018328.4(MBD5):c.69G>A (p.Val23=) rs151204004
NM_018328.4(MBD5):c.740C>T (p.Pro247Leu) rs796052707
NM_018328.4(MBD5):c.796A>G (p.Ile266Val) rs568826753
NM_018328.4(MBD5):c.801C>G (p.His267Gln) rs747135508
NM_018328.4(MBD5):c.884C>G (p.Thr295Ser) rs368339420
NM_018328.4(MBD5):c.888_889TA[1] (p.Ile297fs) rs796052719
NM_018328.4(MBD5):c.913A>G (p.Thr305Ala) rs1057521255
NM_018328.4(MBD5):c.935A>T (p.Lys312Ile) rs146031838
NM_018328.4(MBD5):c.939A>G (p.Pro313=) rs781250091
NM_018328.4(MBD5):c.943T>G (p.Cys315Gly) rs770076687
NM_018328.4(MBD5):c.961A>G (p.Met321Val) rs369869865
NM_018328.4(MBD5):c.980T>C (p.Met327Thr) rs776228346

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