ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr) rs370340010 0.00009
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) rs114359726 0.00007
NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp) rs748328427 0.00004
NM_001378120.1(MBD5):c.1849C>T (p.His617Tyr) rs367876435 0.00003
NM_001378120.1(MBD5):c.2122A>G (p.Met708Val) rs796052721 0.00003
NM_001378120.1(MBD5):c.2165G>A (p.Gly722Asp) rs1276079664 0.00003
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val) rs773522192 0.00003
NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala) rs752535474 0.00002
NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe) rs1230879827 0.00001
NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile) rs535000990 0.00001
NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp) rs750882049 0.00001
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) rs576930680 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378120.1(MBD5):c.2277G>A (p.Val759=) rs750839601 0.00001
NM_001378120.1(MBD5):c.2762C>T (p.Ser921Phe) rs545034063 0.00001
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg) rs377062993 0.00001
NM_001378120.1(MBD5):c.3731C>A (p.Ala1244Asp) rs1057522910 0.00001
NM_001378120.1(MBD5):c.4060A>G (p.Ser1354Gly) rs796052717 0.00001
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val) rs1057518375 0.00001
NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn) rs749348330 0.00001
NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln) rs763299719 0.00001
NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys) rs534850589 0.00001
NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr) rs773716719 0.00001
NM_001378120.1(MBD5):c.740C>T (p.Pro247Leu) rs796052707 0.00001
NM_001378120.1(MBD5):c.801C>G (p.His267Gln) rs747135508 0.00001
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe) rs1201462027
NM_001378120.1(MBD5):c.1087C>T (p.Pro363Ser)
NM_001378120.1(MBD5):c.114-9T>G
NM_001378120.1(MBD5):c.1171A>C (p.Met391Leu)
NM_001378120.1(MBD5):c.1172T>G (p.Met391Arg)
NM_001378120.1(MBD5):c.1229C>A (p.Pro410Gln) rs2105630503
NM_001378120.1(MBD5):c.1252A>T (p.Asn418Tyr)
NM_001378120.1(MBD5):c.1276G>C (p.Val426Leu)
NM_001378120.1(MBD5):c.1281G>T (p.Gln427His)
NM_001378120.1(MBD5):c.1327G>T (p.Val443Leu) rs137977565
NM_001378120.1(MBD5):c.1330C>A (p.His444Asn) rs2105631769
NM_001378120.1(MBD5):c.1336A>G (p.Met446Val)
NM_001378120.1(MBD5):c.1385C>T (p.Ser462Leu)
NM_001378120.1(MBD5):c.1417A>G (p.Met473Val) rs1064796951
NM_001378120.1(MBD5):c.1419G>A (p.Met473Ile) rs1057524543
NM_001378120.1(MBD5):c.1470_1478del (p.490PRS[1]) rs1553518587
NM_001378120.1(MBD5):c.1558G>T (p.Asp520Tyr)
NM_001378120.1(MBD5):c.1597C>A (p.Leu533Ile) rs746692198
NM_001378120.1(MBD5):c.163C>G (p.Leu55Val) rs2105571487
NM_001378120.1(MBD5):c.1708A>G (p.Asn570Asp) rs890777200
NM_001378120.1(MBD5):c.172G>A (p.Gly58Arg)
NM_001378120.1(MBD5):c.1831A>C (p.Ser611Arg)
NM_001378120.1(MBD5):c.1835_1837delinsTCT (p.Gly612_Asn613delinsValTyr)
NM_001378120.1(MBD5):c.1909G>A (p.Gly637Arg) rs750882049
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly) rs112334672
NM_001378120.1(MBD5):c.1999T>A (p.Leu667Met) rs529715710
NM_001378120.1(MBD5):c.199C>T (p.Pro67Ser)
NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg) rs766104877
NM_001378120.1(MBD5):c.2000T>G (p.Leu667Trp) rs796052711
NM_001378120.1(MBD5):c.2119T>G (p.Ser707Ala) rs1394309796
NM_001378120.1(MBD5):c.2122A>T (p.Met708Leu) rs796052721
NM_001378120.1(MBD5):c.2168G>T (p.Cys723Phe)
NM_001378120.1(MBD5):c.2358G>T (p.Gln786His) rs1574462092
NM_001378120.1(MBD5):c.2413A>C (p.Asn805His) rs796052712
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala) rs894958571
NM_001378120.1(MBD5):c.2431C>A (p.Pro811Thr) rs796052713
NM_001378120.1(MBD5):c.2498A>T (p.Asn833Ile) rs1131691751
NM_001378120.1(MBD5):c.2518+5G>A
NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del) rs1681214533
NM_001378120.1(MBD5):c.2528G>A (p.Gly843Glu) rs2105071391
NM_001378120.1(MBD5):c.2545G>A (p.Ala849Thr)
NM_001378120.1(MBD5):c.2552C>A (p.Ala851Glu) rs144557654
NM_001378120.1(MBD5):c.2567C>T (p.Pro856Leu)
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_001378120.1(MBD5):c.266A>G (p.Asp89Gly)
NM_001378120.1(MBD5):c.2692C>T (p.Leu898Phe)
NM_001378120.1(MBD5):c.275C>G (p.Ala92Gly) rs2105581712
NM_001378120.1(MBD5):c.2768C>T (p.Pro923Leu) rs2105073568
NM_001378120.1(MBD5):c.2842G>A (p.Glu948Lys) rs2105074134
NM_001378120.1(MBD5):c.322G>A (p.Ala108Thr) rs989078419
NM_001378120.1(MBD5):c.3545G>A (p.Gly1182Asp)
NM_001378120.1(MBD5):c.3552G>A (p.Met1184Ile)
NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys) rs1200329763
NM_001378120.1(MBD5):c.3629C>T (p.Pro1210Leu)
NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr) rs1435405119
NM_001378120.1(MBD5):c.3753+3A>G
NM_001378120.1(MBD5):c.3786C>G (p.Asn1262Lys) rs771343592
NM_001378120.1(MBD5):c.3851C>T (p.Pro1284Leu) rs761872951
NM_001378120.1(MBD5):c.3899T>G (p.Leu1300Arg) rs1473923947
NM_001378120.1(MBD5):c.3901G>C (p.Gly1301Arg) rs748975545
NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys) rs796052715
NM_001378120.1(MBD5):c.392G>A (p.Gly131Glu)
NM_001378120.1(MBD5):c.4075T>C (p.Phe1359Leu) rs796052718
NM_001378120.1(MBD5):c.409G>A (p.Val137Ile) rs752962199
NM_001378120.1(MBD5):c.4192C>T (p.Arg1398Trp) rs558876535
NM_001378120.1(MBD5):c.4229A>G (p.Asn1410Ser) rs1413458459
NM_001378120.1(MBD5):c.4234G>A (p.Gly1412Arg) rs2105127672
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_001378120.1(MBD5):c.4246G>A (p.Glu1416Lys) rs1681465796
NM_001378120.1(MBD5):c.4312G>A (p.Gly1438Arg) rs1681468663
NM_001378120.1(MBD5):c.4360C>T (p.His1454Tyr)
NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser)
NM_001378120.1(MBD5):c.4408C>G (p.Leu1470Val)
NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser) rs762922278
NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val) rs898923113
NM_001378120.1(MBD5):c.4535G>T (p.Arg1512Ile) rs1681477641
NM_001378120.1(MBD5):c.4556G>A (p.Arg1519Lys) rs1057518363
NM_001378120.1(MBD5):c.4573G>T (p.Gly1525Trp) rs1258885082
NM_001378120.1(MBD5):c.4616G>A (p.Ser1539Asn)
NM_001378120.1(MBD5):c.464G>T (p.Gly155Val)
NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr)
NM_001378120.1(MBD5):c.4750A>C (p.Ser1584Arg)
NM_001378120.1(MBD5):c.4824G>C (p.Leu1608Phe)
NM_001378120.1(MBD5):c.4837C>T (p.Pro1613Ser) rs773779478
NM_001378120.1(MBD5):c.4864G>A (p.Val1622Ile) rs758218596
NM_001378120.1(MBD5):c.4873C>A (p.Gln1625Lys)
NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly) rs796052706
NM_001378120.1(MBD5):c.5104T>C (p.Ser1702Pro) rs1131691294
NM_001378120.1(MBD5):c.5128C>G (p.Gln1710Glu) rs2105294920
NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn) rs1553523408
NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)
NM_001378120.1(MBD5):c.523T>C (p.Ser175Pro)
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys) rs2105537073
NM_001378120.1(MBD5):c.799C>T (p.His267Tyr)
NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr) rs768720064
NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)

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