ClinVar Miner

List of variants in gene MBD5 studied for not provided

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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP
GRCh37/hg19 2q23.1(chr2:148808568-148812188)x1
GRCh37/hg19 2q23.1(chr2:148808568-148814430)x1
GRCh37/hg19 2q23.1(chr2:148814430-148861205)x1
GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3
GRCh37/hg19 2q23.1(chr2:148851963-148929896)x1
GRCh37/hg19 2q23.1(chr2:148860592-148974600)x3
GRCh37/hg19 2q23.1(chr2:148984799-149022674)x1
GRCh37/hg19 2q23.1(chr2:149065242-149069742)x1
GRCh37/hg19 2q23.1(chr2:149065395-149069742)x1
GRCh37/hg19 2q23.1(chr2:149094014-149166807)x1
GRCh37/hg19 2q23.1(chr2:149109237-149178974)x1
GRCh37/hg19 2q23.1(chr2:149131384-149162368)x1
GRCh37/hg19 2q23.1(chr2:149170115-149202550)x1
GRCh37/hg19 2q23.1(chr2:149198831-149204775)x1
GRCh37/hg19 2q23.1(chr2:149199613-149202176)x1
GRCh37/hg19 2q23.1(chr2:149201266-149202550)x0
GRCh37/hg19 2q23.1(chr2:149204841-149244732)x3
GRCh37/hg19 2q23.1(chr2:149204841-149266085)x3
GRCh37/hg19 2q23.1(chr2:149206411-149239689)x3
GRCh37/hg19 2q23.1(chr2:149206411-149242773)x3
GRCh37/hg19 2q23.1(chr2:149206411-149244732)x3
GRCh37/hg19 2q23.1(chr2:149206821-149266085)x3
GRCh37/hg19 2q23.1(chr2:149248413-149250399)x1
NM_018328.4(MBD5):c.1039C>T (p.Gln347Ter)
NM_018328.4(MBD5):c.1094C>T (p.Pro365Leu) rs794727974
NM_018328.4(MBD5):c.1114_1115dup (p.Asn372Lysfs) rs1553518527
NM_018328.4(MBD5):c.1198G>A (p.Val400Ile) rs377568191
NM_018328.4(MBD5):c.1232C>T (p.Thr411Ile) rs535000990
NM_018328.4(MBD5):c.1321_1322insC (p.Val443Argfs) rs1553518563
NM_018328.4(MBD5):c.1327G>T (p.Val443Leu) rs137977565
NM_018328.4(MBD5):c.1341G>A (p.Gly447=) rs886044445
NM_018328.4(MBD5):c.1406A>G (p.His469Arg) rs766571687
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.1470_1478delCAGGTCACC (p.Pro493_Ser495del) rs1553518587
NM_018328.4(MBD5):c.1549C>T (p.Gln517Ter) rs1553518593
NM_018328.4(MBD5):c.1570C>T (p.Pro524Ser) rs727503998
NM_018328.4(MBD5):c.1759C>T (p.Gln587Ter)
NM_018328.4(MBD5):c.1784C>T (p.Ala595Val)
NM_018328.4(MBD5):c.1811delA (p.Asn604Ilefs) rs1057518567
NM_018328.4(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_018328.4(MBD5):c.1955A>G (p.Gln652Arg) rs398124342
NM_018328.4(MBD5):c.1963G>A (p.Ala655Thr) rs576930680
NM_018328.4(MBD5):c.1999T>A (p.Leu667Met) rs529715710
NM_018328.4(MBD5):c.2000T>G (p.Leu667Trp) rs796052711
NM_018328.4(MBD5):c.2010C>G (p.Leu670=) rs371014306
NM_018328.4(MBD5):c.2025_2028delGGAT (p.Met675Ilefs) rs1131691713
NM_018328.4(MBD5):c.205A>G (p.Ile69Val) rs749163361
NM_018328.4(MBD5):c.2101A>G (p.Met701Val) rs398124343
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.2196C>G (p.Cys732Trp) rs748328427
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.2279A>G (p.His760Arg) rs763275881
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.2498A>T (p.Asn833Ile) rs1131691751
NM_018328.4(MBD5):c.258C>T (p.Thr86=) rs542137271
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.2711G>A (p.Ser904Asn) rs398124344
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.2903C>T (p.Ser968Leu) rs200985982
NM_018328.4(MBD5):c.2904G>T (p.Ser968=) rs138058889
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.2981C>T (p.Ala994Val) rs773522192
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.3067G>T (p.Glu1023Ter) rs1064796473
NM_018328.4(MBD5):c.3087C>G (p.Asn1029Lys) rs771343592
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
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.3253G>A (p.Val1085Ile) rs199626531
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.3361A>G (p.Ser1121Gly) rs796052717
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.340_347delAAAAGCAT (p.Lys114Glyfs) rs794727928
NM_018328.4(MBD5):c.3439C>T (p.Arg1147Trp) rs142293829
NM_018328.4(MBD5):c.3493C>T (p.Arg1165Trp) rs558876535
NM_018328.4(MBD5):c.3494G>A (p.Arg1165Gln) rs727503999
NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) rs752035001
NM_018328.4(MBD5):c.3559T>G (p.Ser1187Ala) rs756608508
NM_018328.4(MBD5):c.3572A>G (p.His1191Arg) rs794727071
NM_018328.4(MBD5):c.3605G>A (p.Ser1202Asn) rs794727072
NM_018328.4(MBD5):c.3619C>T (p.Arg1207Ter) rs978179634
NM_018328.4(MBD5):c.361_362delCC (p.Pro121Phefs) rs1553517973
NM_018328.4(MBD5):c.3699dup (p.Val1234Cysfs) rs1553520585
NM_018328.4(MBD5):c.3702C>T (p.Val1234=) rs144957555
NM_018328.4(MBD5):c.3767G>A (p.Gly1256Glu) rs773267074
NM_018328.4(MBD5):c.3776T>G (p.Ile1259Ser) rs762922278
NM_018328.4(MBD5):c.3806A>G (p.Tyr1269Cys) rs773873513
NM_018328.4(MBD5):c.3887G>A (p.Arg1296Gln) rs727504000
NM_018328.4(MBD5):c.3898G>A (p.Gly1300Arg) rs747948310
NM_018328.4(MBD5):c.3930A>G (p.Gln1310=) rs115145637
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.409G>A (p.Val137Ile) rs752962199
NM_018328.4(MBD5):c.4138C>T (p.Pro1380Ser) rs773779478
NM_018328.4(MBD5):c.415C>T (p.Pro139Ser)
NM_018328.4(MBD5):c.4188G>A (p.Leu1396=) rs779662045
NM_018328.4(MBD5):c.422G>A (p.Arg141Gln) rs200245855
NM_018328.4(MBD5):c.4252G>A (p.Glu1418Lys) rs577955398
NM_018328.4(MBD5):c.4264-10C>A
NM_018328.4(MBD5):c.4276A>T (p.Lys1426Ter) rs1553521650
NM_018328.4(MBD5):c.4405T>C (p.Ser1469Pro) rs1131691294
NM_018328.4(MBD5):c.440C>G (p.Ser147Ter) rs886041003
NM_018328.4(MBD5):c.4458A>T (p.Lys1486Asn) rs1553523408
NM_018328.4(MBD5):c.476C>T (p.Ser159Phe) rs780774076
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)
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_018328.4(MBD5):c.601C>T (p.Gln201Ter)
NM_018328.4(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_018328.4(MBD5):c.664C>T (p.Pro222Ser) rs772393394
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.720G>A (p.Arg240=) rs727503997
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.890_891delTA (p.Ile297Thrfs) rs796052719
NM_018328.4(MBD5):c.8G>T (p.Gly3Val) rs794727807
NM_018328.4(MBD5):c.904A>G (p.Thr302Ala) rs483352748
NM_018328.4(MBD5):c.980T>C (p.Met327Thr) rs776228346

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