ClinVar Miner

List of variants in gene MBD5 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.113+166_113+167insG rs111721579 0.01441
NM_001378120.1(MBD5):c.397+172T>C rs139794670 0.00658
NM_001378120.1(MBD5):c.-557+104G>A rs79508062 0.00577
NM_001378120.1(MBD5):c.397+150G>A rs116117972 0.00545
NM_001378120.1(MBD5):c.398-22C>A rs192677180 0.00436
NM_001378120.1(MBD5):c.2903C>A (p.Ala968Asp) rs72861124 0.00288
NM_001378120.1(MBD5):c.3545-43G>A rs200344212 0.00269
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile) rs145808884 0.00042
NM_001378120.1(MBD5):c.*50A>G rs113386382 0.00036
NM_001378120.1(MBD5):c.-933G>A rs992673818 0.00029
NM_001378120.1(MBD5):c.1961A>T (p.Asp654Val) rs115495710 0.00029
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00023
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) rs371014306 0.00021
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_001378120.1(MBD5):c.2502A>C (p.Gln834His) rs147272790 0.00021
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) rs761118931 0.00016
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) rs377604964 0.00009
NM_001378120.1(MBD5):c.4182A>G (p.Ser1394=) rs775314520 0.00009
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr) rs534413662 0.00009
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala) rs756608508 0.00009
NM_001378120.1(MBD5):c.935A>T (p.Lys312Ile) rs146031838 0.00009
NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro) rs761395486 0.00008
NM_001378120.1(MBD5):c.1458T>C (p.Ile486=) rs144232195 0.00007
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) rs558138423 0.00007
NM_001378120.1(MBD5):c.1965A>C (p.Ala655=) rs774148814 0.00007
NM_001378120.1(MBD5):c.3681G>A (p.Ala1227=) rs572893308 0.00007
NM_001378120.1(MBD5):c.3690A>G (p.Gly1230=) rs139379552 0.00007
NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg) rs201334086 0.00007
NM_001378120.1(MBD5):c.4963-10C>T rs201439677 0.00007
NM_001378120.1(MBD5):c.-663C>T rs748989182 0.00006
NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu) rs768570356 0.00006
NM_001378120.1(MBD5):c.1536C>T (p.Ser512=) rs147908860 0.00006
NM_001378120.1(MBD5):c.1999T>C (p.Leu667=) rs529715710 0.00006
NM_001378120.1(MBD5):c.267T>C (p.Asp89=) rs143333632 0.00006
NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln) rs368605084 0.00006
NM_001378120.1(MBD5):c.113+4A>G rs201821636 0.00005
NM_001378120.1(MBD5):c.1449T>C (p.Ser483=) rs777754350 0.00005
NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp) rs757922781 0.00005
NM_001378120.1(MBD5):c.183G>A (p.Lys61=) rs140522551 0.00005
NM_001378120.1(MBD5):c.2148T>C (p.Ser716=) rs746698199 0.00005
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) rs200151142 0.00005
NM_001378120.1(MBD5):c.3669G>A (p.Gln1223=) rs143854410 0.00005
NM_001378120.1(MBD5):c.3726C>T (p.Pro1242=) rs144464864 0.00005
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.327G>A (p.Val109=) rs760258675 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.4732G>A (p.Val1578Ile) rs376249586 0.00004
NM_001378120.1(MBD5):c.5112+52G>A rs371559673 0.00004
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) rs776228346 0.00004
NM_001378120.1(MBD5):c.-826A>G rs1050579064 0.00003
NM_001378120.1(MBD5):c.1327G>A (p.Val443Met) rs137977565 0.00003
NM_001378120.1(MBD5):c.1962C>T (p.Asp654=) rs139953766 0.00003
NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg) rs774227790 0.00003
NM_001378120.1(MBD5):c.2370C>T (p.Ser790=) rs376037852 0.00003
NM_001378120.1(MBD5):c.2454G>A (p.Thr818=) rs769275989 0.00003
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr) rs769330358 0.00003
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.3603G>A (p.Ser1201=) rs138058889 0.00003
NM_001378120.1(MBD5):c.3663G>T (p.Gly1221=) rs774912000 0.00003
NM_001378120.1(MBD5):c.397+20G>A rs201763502 0.00003
NM_001378120.1(MBD5):c.4047C>T (p.Pro1349=) rs367766748 0.00003
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln) rs200245855 0.00003
NM_001378120.1(MBD5):c.4746G>T (p.Val1582=) rs138337378 0.00003
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) rs779662045 0.00003
NM_001378120.1(MBD5):c.4920C>T (p.Asp1640=) rs768363712 0.00003
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val) rs751251720 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.943T>G (p.Cys315Gly) rs770076687 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378120.1(MBD5):c.*5G>C rs1682262158 0.00002
NM_001378120.1(MBD5):c.1803C>T (p.Ser601=) rs772321704 0.00002
NM_001378120.1(MBD5):c.2751C>G (p.Ser917Arg) rs935799783 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_001378120.1(MBD5):c.3569C>A (p.Thr1190Asn) rs774999439 0.00002
NM_001378120.1(MBD5):c.3771T>C (p.Asp1257=) rs780699486 0.00002
NM_001378120.1(MBD5):c.3847C>G (p.Pro1283Ala) rs764468729 0.00002
NM_001378120.1(MBD5):c.3924C>T (p.Leu1308=) rs146096552 0.00002
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00002
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp) rs142293829 0.00002
NM_001378120.1(MBD5):c.4319G>A (p.Arg1440Gln) rs139042949 0.00002
NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys) rs373234696 0.00002
NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=) rs755570293 0.00002
NM_001378120.1(MBD5):c.675G>A (p.Ala225=) rs775582219 0.00002
NM_001378120.1(MBD5):c.*12C>A rs755460512 0.00001
NM_001378120.1(MBD5):c.-924-3T>C rs1293921044 0.00001
NM_001378120.1(MBD5):c.113+14A>G rs759575165 0.00001
NM_001378120.1(MBD5):c.1269A>T (p.Val423=) rs746576866 0.00001
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val) rs771672174 0.00001
NM_001378120.1(MBD5):c.1827C>T (p.Ala609=) rs761655364 0.00001
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser) rs142495834 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.216+15A>G rs759004187 0.00001
NM_001378120.1(MBD5):c.2213A>G (p.His738Arg) rs528789050 0.00001
NM_001378120.1(MBD5):c.2311A>G (p.Ser771Gly) rs777686665 0.00001
NM_001378120.1(MBD5):c.24C>T (p.Asp8=) rs751181406 0.00001
NM_001378120.1(MBD5):c.2519-19T>G rs200810831 0.00001
NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met) rs756787235 0.00001
NM_001378120.1(MBD5):c.328G>A (p.Ala110Thr) rs1265044011 0.00001
NM_001378120.1(MBD5):c.3545-10C>G rs1574479997 0.00001
NM_001378120.1(MBD5):c.3597A>G (p.Leu1199=) rs968871300 0.00001
NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu) rs1429887811 0.00001
NM_001378120.1(MBD5):c.4054G>T (p.Ala1352Ser) rs373177231 0.00001
NM_001378120.1(MBD5):c.4106T>C (p.Leu1369Pro) rs1406103855 0.00001
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn) rs763106823 0.00001
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser) rs1472737578 0.00001
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) rs1057522316 0.00001
NM_001378120.1(MBD5):c.4318C>A (p.Arg1440=) rs978179634 0.00001
NM_001378120.1(MBD5):c.4335C>T (p.Tyr1445=) rs368825815 0.00001
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu) rs773267074 0.00001
NM_001378120.1(MBD5):c.4590G>A (p.Gln1530=) rs1057521419 0.00001
NM_001378120.1(MBD5):c.4626G>A (p.Lys1542=) rs1467670256 0.00001
NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile) rs749436847 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=) rs147744781 0.00001
NM_001378120.1(MBD5):c.4929C>T (p.His1643=) rs773406626 0.00001
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys) rs577955398 0.00001
NM_001378120.1(MBD5):c.4962+16T>G rs760744123 0.00001
NM_001378120.1(MBD5):c.5015G>A (p.Arg1672His) rs150519311 0.00001
NM_001378120.1(MBD5):c.5021G>A (p.Arg1674Gln) rs750291645 0.00001
NM_001378120.1(MBD5):c.5107G>A (p.Gly1703Arg) rs1057523369 0.00001
NM_001378120.1(MBD5):c.5109G>T (p.Gly1703=) rs144358466 0.00001
NM_001378120.1(MBD5):c.5163G>A (p.Lys1721=) rs1057522299 0.00001
NM_001378120.1(MBD5):c.573A>G (p.Gln191=) rs188689135 0.00001
NM_001378120.1(MBD5):c.588T>C (p.Pro196=) rs373675091 0.00001
NM_001378120.1(MBD5):c.60A>G (p.Gln20=) rs1057522537 0.00001
NM_001378120.1(MBD5):c.-557+6C>A rs1553503044
NM_001378120.1(MBD5):c.-660A>C rs888498386
NM_001378120.1(MBD5):c.-693A>G rs1057523808
NM_001378120.1(MBD5):c.-925+18G>A rs1057522564
NM_001378120.1(MBD5):c.102G>T (p.Val34=) rs1057522320
NM_001378120.1(MBD5):c.114-16dup rs758376752
NM_001378120.1(MBD5):c.1635T>A (p.Ser545=) rs1057522805
NM_001378120.1(MBD5):c.1762C>T (p.Leu588=) rs1057522502
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.1987C>T (p.Pro663Ser) rs1057520996
NM_001378120.1(MBD5):c.2127T>C (p.Ser709=) rs763873615
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg) rs1060501152
NM_001378120.1(MBD5):c.2511T>A (p.Ser837=) rs1553518827
NM_001378120.1(MBD5):c.2518+4T>C rs1553518830
NM_001378120.1(MBD5):c.2552C>T (p.Ala851Val) rs144557654
NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr) rs752535474
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp) rs765892446
NM_001378120.1(MBD5):c.354C>T (p.Ala118=) rs1385280226
NM_001378120.1(MBD5):c.3753+15T>A rs1057524750
NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=) rs772658882
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=) rs1014000010
NM_001378120.1(MBD5):c.4401C>G (p.Val1467=) rs144957555
NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn) rs2105129435
NM_001378120.1(MBD5):c.4455A>C (p.Arg1485Ser) rs747940875
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly) rs1165120864
NM_001378120.1(MBD5):c.4591A>C (p.Ser1531Arg) rs781154198
NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn) rs1278585545
NM_001378120.1(MBD5):c.4749T>C (p.Pro1583=) rs1057523104
NM_001378120.1(MBD5):c.4935A>C (p.Ser1645=) rs149419174
NM_001378120.1(MBD5):c.4935A>G (p.Ser1645=) rs149419174
NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=) rs148394839
NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=) rs1057521520
NM_001378120.1(MBD5):c.5010C>T (p.Tyr1670=) rs1057523158
NM_001378120.1(MBD5):c.558G>T (p.Leu186=) rs1553518428
NM_001378120.1(MBD5):c.678A>T (p.Ser226=) rs1057523021
NM_001378120.1(MBD5):c.913A>G (p.Thr305Ala) rs1057521255
NM_001378120.1(MBD5):c.939A>G (p.Pro313=) rs781250091
NM_001378120.1(MBD5):c.968T>C (p.Ile323Thr) rs2105627859

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