ClinVar Miner

List of variants in gene MBD5 studied for not provided

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Gene type:
ClinVar version:
Total variants: 447
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.3545-51G>A rs2121344 0.57748
NM_001378120.1(MBD5):c.-924-89A>C rs12465610 0.30343
NM_001378120.1(MBD5):c.*200A>G rs16828708 0.28537
NM_001378120.1(MBD5):c.-557+247T>C rs2602352 0.26966
NM_001378120.1(MBD5):c.-557+197A>T rs35177340 0.25018
NM_001378120.1(MBD5):c.113+221A>G rs10928397 0.19908
NM_001378120.1(MBD5):c.114-168T>G rs13402768 0.13753
NM_001378120.1(MBD5):c.3754-48dup rs111476224 0.09545
NM_001378120.1(MBD5):c.398-286C>T rs56200529 0.07330
NM_001378120.1(MBD5):c.4963-56G>A rs73003524 0.07035
NM_001378120.1(MBD5):c.4963-57C>T rs80229097 0.03895
NM_001378120.1(MBD5):c.4963-136A>G rs115609480 0.03662
NM_001378120.1(MBD5):c.4962+250A>C rs7574808 0.02409
NM_001378120.1(MBD5):c.113+166_113+167insG rs111721579 0.01441
NM_001378120.1(MBD5):c.397+172T>C rs139794670 0.00705
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
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 0.00476
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
NM_001378120.1(MBD5):c.-829A>G rs186186684 0.00397
NM_001378120.1(MBD5):c.-556-8T>C rs140968376 0.00355
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_001378120.1(MBD5):c.2903C>A (p.Ala968Asp) rs72861124 0.00294
NM_001378120.1(MBD5):c.3545-43G>A rs200344212 0.00283
NM_001378120.1(MBD5):c.3207C>T (p.Asn1069=) rs181919984 0.00242
NM_001378120.1(MBD5):c.3169C>T (p.Pro1057Ser) rs188449443 0.00240
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001378120.1(MBD5):c.3112A>G (p.Ser1038Gly) rs562128787 0.00123
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00074
NM_001378120.1(MBD5):c.216+48T>A rs111722958 0.00073
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001378120.1(MBD5):c.-831+9dup rs796052705 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile) rs145808884 0.00047
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_001378120.1(MBD5):c.471A>G (p.Thr157=) rs138433455 0.00040
NM_001378120.1(MBD5):c.*50A>G rs113386382 0.00038
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
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.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_001378120.1(MBD5):c.2518+47A>G rs371331451 0.00026
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
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.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) rs761118931 0.00019
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.4182A>G (p.Ser1394=) rs775314520 0.00010
NM_001378120.1(MBD5):c.1458T>C (p.Ile486=) rs144232195 0.00009
NM_001378120.1(MBD5):c.1965A>C (p.Ala655=) rs774148814 0.00009
NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr) rs370340010 0.00009
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) rs377604964 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.2840G>A (p.Gly947Glu) rs114359726 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.1141T>C (p.Phe381Leu) rs768570356 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.3726C>T (p.Pro1242=) rs144464864 0.00006
NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln) rs368605084 0.00006
NM_001378120.1(MBD5):c.183G>A (p.Lys61=) rs140522551 0.00005
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) rs200151142 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001378120.1(MBD5):c.2148T>C (p.Ser716=) rs746698199 0.00004
NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp) rs748328427 0.00004
NM_001378120.1(MBD5):c.2370C>T (p.Ser790=) rs376037852 0.00004
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn) rs398124344 0.00004
NM_001378120.1(MBD5):c.3663G>T (p.Gly1221=) rs774912000 0.00004
NM_001378120.1(MBD5):c.3669G>A (p.Gln1223=) rs143854410 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 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.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.1327G>A (p.Val443Met) rs137977565 0.00003
NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile) rs748835022 0.00003
NM_001378120.1(MBD5):c.1849C>T (p.His617Tyr) rs367876435 0.00003
NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg) rs774227790 0.00003
NM_001378120.1(MBD5):c.2101A>G (p.Met701Val) rs398124343 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.2543T>G (p.Ile848Arg) rs184415910 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.3680C>T (p.Ala1227Val) rs773522192 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.4586G>A (p.Arg1529Gln) rs727504000 0.00003
NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys) rs373234696 0.00003
NM_001378120.1(MBD5):c.4746G>T (p.Val1582=) rs138337378 0.00003
NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn) rs750381367 0.00003
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) rs779662045 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.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378120.1(MBD5):c.*5G>C rs1682262158 0.00002
NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp) rs757922781 0.00002
NM_001378120.1(MBD5):c.1827C>T (p.Ala609=) rs761655364 0.00002
NM_001378120.1(MBD5):c.258C>T (p.Thr86=) rs542137271 0.00002
NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu) rs766460176 0.00002
NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala) rs752535474 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.3578A>G (p.Asn1193Ser) rs754193314 0.00002
NM_001378120.1(MBD5):c.3771T>C (p.Asp1257=) rs780699486 0.00002
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp) rs142293829 0.00002
NM_001378120.1(MBD5):c.476C>T (p.Ser159Phe) rs780774076 0.00002
NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=) rs755570293 0.00002
NM_001378120.1(MBD5):c.720G>A (p.Arg240=) rs727503997 0.00002
NM_001378120.1(MBD5):c.-924-3T>C rs1293921044 0.00001
NM_001378120.1(MBD5):c.1104A>C (p.Pro368=) rs756273559 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.113+14A>G rs759575165 0.00001
NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe) rs1230879827 0.00001
NM_001378120.1(MBD5):c.1180G>A (p.Val394Ile) rs1411951713 0.00001
NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile) rs535000990 0.00001
NM_001378120.1(MBD5):c.1269A>T (p.Val423=) rs746576866 0.00001
NM_001378120.1(MBD5):c.1341G>A (p.Gly447=) rs886044445 0.00001
NM_001378120.1(MBD5):c.1406A>G (p.His469Arg) rs766571687 0.00001
NM_001378120.1(MBD5):c.1618G>C (p.Ala540Pro) rs1169180874 0.00001
NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg) rs116235310 0.00001
NM_001378120.1(MBD5):c.1784C>T (p.Ala595Val) rs771275834 0.00001
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser) rs142495834 0.00001
NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp) rs750882049 0.00001
NM_001378120.1(MBD5):c.1955A>G (p.Gln652Arg) rs398124342 0.00001
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) rs576930680 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser) rs983507514 0.00001
NM_001378120.1(MBD5):c.2140C>G (p.His714Asp) rs886054909 0.00001
NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe) rs1438163020 0.00001
NM_001378120.1(MBD5):c.2277G>A (p.Val759=) rs750839601 0.00001
NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser) rs1294270968 0.00001
NM_001378120.1(MBD5):c.2311A>G (p.Ser771Gly) rs777686665 0.00001
NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser) rs768601611 0.00001
NM_001378120.1(MBD5):c.24C>T (p.Asp8=) rs751181406 0.00001
NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp) rs756065878 0.00001
NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met) rs756787235 0.00001
NM_001378120.1(MBD5):c.2658G>A (p.Gly886=) rs1182648375 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.328G>A (p.Ala110Thr) rs1265044011 0.00001
NM_001378120.1(MBD5):c.3545-10C>G rs1574479997 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.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.4193G>A (p.Arg1398Gln) rs727503999 0.00001
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) rs1057522316 0.00001
NM_001378120.1(MBD5):c.4231G>A (p.Glu1411Lys) rs571209967 0.00001
NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn) rs749348330 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.4597G>A (p.Gly1533Arg) rs747948310 0.00001
NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile) rs749436847 0.00001
NM_001378120.1(MBD5):c.4713A>G (p.Gly1571=) rs1470745744 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln) rs763299719 0.00001
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys) rs577955398 0.00001
NM_001378120.1(MBD5):c.4971C>T (p.Pro1657=) rs761003936 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.5109G>T (p.Gly1703=) rs144358466 0.00001
NM_001378120.1(MBD5):c.5112+52G>A rs371559673 0.00001
NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys) rs534850589 0.00001
NM_001378120.1(MBD5):c.5163G>A (p.Lys1721=) rs1057522299 0.00001
NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr) rs773716719 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.643C>T (p.Arg215Cys) rs777516937 0.00001
NM_001378120.1(MBD5):c.664C>T (p.Pro222Ser) rs772393394 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
GRCh37/hg19 2q23.1(chr2:148781910-148929896)x1
GRCh37/hg19 2q23.1(chr2:148789732-148901245)x1
GRCh37/hg19 2q23.1(chr2:148789732-148965615)x1
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(chr2:148815797-148859188)x1
GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3
GRCh37/hg19 2q23.1(chr2:148820550-148914178)x1
GRCh37/hg19 2q23.1(chr2:148825739-148914178)x1
GRCh37/hg19 2q23.1(chr2:148826079-148959158)x1
GRCh37/hg19 2q23.1(chr2:148840142-148963444)x1
GRCh37/hg19 2q23.1(chr2:148851963-148929896)x1
GRCh37/hg19 2q23.1(chr2:148851964-148954778)x1
GRCh37/hg19 2q23.1(chr2:148860592-148974600)x3
GRCh37/hg19 2q23.1(chr2:148862629-148922187)x1
GRCh37/hg19 2q23.1(chr2:148883626-149209179)x1
GRCh37/hg19 2q23.1(chr2:148893783-149050963)x1
GRCh37/hg19 2q23.1(chr2:148913951-148963444)x1
GRCh37/hg19 2q23.1(chr2:148932571-148969209)x1
GRCh37/hg19 2q23.1(chr2:148938816-149039696)x1
GRCh37/hg19 2q23.1(chr2:148954841-149100457)x3
GRCh37/hg19 2q23.1(chr2:148984799-149022674)x1
GRCh37/hg19 2q23.1(chr2:148995224-149294556)x3
GRCh37/hg19 2q23.1(chr2:149059294-149118330)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(chr2:149166807-149366862)x3
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(chr2:149216328-149260078)x1
GRCh37/hg19 2q23.1(chr2:149248413-149250399)x1
NM_001378120.1(MBD5):c.-660A>T rs888498386
NM_001378120.1(MBD5):c.1016C>A (p.Pro339His)
NM_001378120.1(MBD5):c.1027T>C (p.Ser343Pro)
NM_001378120.1(MBD5):c.1039C>T (p.Gln347Ter) rs1559086213
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe) rs1201462027
NM_001378120.1(MBD5):c.1087C>T (p.Pro363Ser)
NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu) rs794727974
NM_001378120.1(MBD5):c.1114_1115dup (p.Asn372fs) rs1553518527
NM_001378120.1(MBD5):c.114-9T>G
NM_001378120.1(MBD5):c.1165G>A (p.Val389Ile) rs2105629940
NM_001378120.1(MBD5):c.1171A>C (p.Met391Leu)
NM_001378120.1(MBD5):c.1172T>G (p.Met391Arg)
NM_001378120.1(MBD5):c.1221C>T (p.Leu407=)
NM_001378120.1(MBD5):c.1227G>C (p.Leu409Phe)
NM_001378120.1(MBD5):c.1229C>A (p.Pro410Gln) rs2105630503
NM_001378120.1(MBD5):c.1241C>T (p.Pro414Leu)
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.1291T>C (p.Ser431Pro)
NM_001378120.1(MBD5):c.1326dup (p.Val443fs) rs1553518563
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.1363G>A (p.Ala455Thr) rs2105632032
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) rs878910680
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.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter) rs1553518593
NM_001378120.1(MBD5):c.1558G>T (p.Asp520Tyr)
NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser) rs727503998
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) rs558138423
NM_001378120.1(MBD5):c.1597C>A (p.Leu533Ile) rs746692198
NM_001378120.1(MBD5):c.1628C>T (p.Thr543Ile)
NM_001378120.1(MBD5):c.163C>G (p.Leu55Val) rs2105571487
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile) rs1574460777
NM_001378120.1(MBD5):c.1708A>G (p.Asn570Asp) rs890777200
NM_001378120.1(MBD5):c.172G>A (p.Gly58Arg)
NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter) rs1559087186
NM_001378120.1(MBD5):c.1811del (p.Asn604fs) rs1057518567
NM_001378120.1(MBD5):c.1831A>C (p.Ser611Arg)
NM_001378120.1(MBD5):c.1835_1837delinsTCT (p.Gly612_Asn613delinsValTyr)
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.1855A>G (p.Thr619Ala)
NM_001378120.1(MBD5):c.1909G>A (p.Gly637Arg) rs750882049
NM_001378120.1(MBD5):c.1936_1937del (p.Arg645_Asp646insTer) rs1574461269
NM_001378120.1(MBD5):c.1966T>A (p.Leu656Met)
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly) rs112334672
NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met) rs755862882
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.2025_2028del (p.Met675fs) rs1131691713
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.2418C>T (p.Ser806=) rs1574462203
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg) rs1060501152
NM_001378120.1(MBD5):c.2431C>A (p.Pro811Thr) rs796052713
NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter) rs1057524832
NM_001378120.1(MBD5):c.2498A>T (p.Asn833Ile) rs1131691751
NM_001378120.1(MBD5):c.2518+5G>A
NM_001378120.1(MBD5):c.2519-9del rs5835195
NM_001378120.1(MBD5):c.2519-9dup rs5835195
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.254_255del (p.Arg85fs) rs1707172225
NM_001378120.1(MBD5):c.2552C>A (p.Ala851Glu) rs144557654
NM_001378120.1(MBD5):c.2552C>T (p.Ala851Val) rs144557654
NM_001378120.1(MBD5):c.2567C>T (p.Pro856Leu)
NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe) rs116207524
NM_001378120.1(MBD5):c.2625T>C (p.Ala875=)
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr) rs752535474
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_001378120.1(MBD5):c.266A>G (p.Asp89Gly)
NM_001378120.1(MBD5):c.2674G>C (p.Val892Leu)
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.2794C>T (p.His932Tyr) rs1574477133
NM_001378120.1(MBD5):c.2837C>A (p.Ala946Glu)
NM_001378120.1(MBD5):c.2842G>A (p.Glu948Lys) rs2105074134
NM_001378120.1(MBD5):c.2979T>C (p.Leu993=)
NM_001378120.1(MBD5):c.3036C>T (p.Ile1012=)
NM_001378120.1(MBD5):c.3043C>A (p.Leu1015Ile)
NM_001378120.1(MBD5):c.3145C>A (p.Leu1049Ile)
NM_001378120.1(MBD5):c.322G>A (p.Ala108Thr) rs989078419
NM_001378120.1(MBD5):c.3231T>C (p.Asn1077=)
NM_001378120.1(MBD5):c.3288G>A (p.Ser1096=)
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs) rs794727928
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp) rs765892446
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.3603G>T (p.Ser1201=) rs138058889
NM_001378120.1(MBD5):c.361_362del (p.Pro121fs) rs1553517973
NM_001378120.1(MBD5):c.3629C>T (p.Pro1210Leu)
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His) rs1465735521
NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu) rs1429887811
NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr) rs1435405119
NM_001378120.1(MBD5):c.3731C>T (p.Ala1244Val)
NM_001378120.1(MBD5):c.3753+3A>G
NM_001378120.1(MBD5):c.3766G>T (p.Glu1256Ter) rs1064796473
NM_001378120.1(MBD5):c.3786C>G (p.Asn1262Lys) rs771343592
NM_001378120.1(MBD5):c.3786C>T (p.Asn1262=) rs771343592
NM_001378120.1(MBD5):c.3824del (p.Pro1275fs) rs1574484218
NM_001378120.1(MBD5):c.3851C>T (p.Pro1284Leu) rs761872951
NM_001378120.1(MBD5):c.3865C>T (p.Pro1289Ser)
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.397+1G>A rs1553517991
NM_001378120.1(MBD5):c.397+5G>C
NM_001378120.1(MBD5):c.4055C>T (p.Ala1352Val) rs1574484641
NM_001378120.1(MBD5):c.4073C>T (p.Ala1358Val)
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.4124C>A (p.Ala1375Glu)
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.4271A>G (p.His1424Arg) rs794727071
NM_001378120.1(MBD5):c.4304G>A (p.Ser1435Asn) rs794727072
NM_001378120.1(MBD5):c.4312G>A (p.Gly1438Arg) rs1681468663
NM_001378120.1(MBD5):c.4318C>T (p.Arg1440Ter) rs978179634
NM_001378120.1(MBD5):c.4352A>C (p.His1451Pro)
NM_001378120.1(MBD5):c.4360C>T (p.His1454Tyr)
NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser)
NM_001378120.1(MBD5):c.4398dup (p.Val1467fs) rs1553520585
NM_001378120.1(MBD5):c.4408C>G (p.Leu1470Val)
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter) rs886041003
NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=) rs748173028
NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn) rs2105129435
NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser) rs762922278
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly) rs1165120864
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.4557A>G (p.Arg1519=) rs1681478303
NM_001378120.1(MBD5):c.4573G>T (p.Gly1525Trp) rs1258885082
NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=) rs1055672536
NM_001378120.1(MBD5):c.4591A>C (p.Ser1531Arg) rs781154198
NM_001378120.1(MBD5):c.4616G>A (p.Ser1539Asn)
NM_001378120.1(MBD5):c.464G>T (p.Gly155Val)
NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn) rs1278585545
NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr)
NM_001378120.1(MBD5):c.4698C>A (p.Tyr1566Ter) rs1553520624
NM_001378120.1(MBD5):c.4750A>C (p.Ser1584Arg)
NM_001378120.1(MBD5):c.4755T>C (p.Pro1585=)
NM_001378120.1(MBD5):c.4809dup (p.Ser1604fs) rs1681487356
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.4884A>G (p.Gly1628=) rs1574485944
NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly) rs796052706
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.4963-10C>A rs201439677
NM_001378120.1(MBD5):c.4975A>T (p.Lys1659Ter) rs1553521650
NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=) rs1057521520
NM_001378120.1(MBD5):c.5037-198dup rs151097491
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.5151C>T (p.Pro1717=)
NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn) rs1553523408
NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr) rs1481914876
NM_001378120.1(MBD5):c.5169G>A (p.Arg1723=) rs1574509614
NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)
NM_001378120.1(MBD5):c.523T>C (p.Ser175Pro)
NM_001378120.1(MBD5):c.546T>G (p.Tyr182Ter) rs1559085550
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter) rs1293936199
NM_001378120.1(MBD5):c.601C>T (p.Gln201Ter) rs200287454
NM_001378120.1(MBD5):c.606A>G (p.Arg202=)
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.688C>T (p.Gln230Ter) rs1085307859
NM_001378120.1(MBD5):c.68del (p.Val23fs) rs2105537032
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys) rs2105537073
NM_001378120.1(MBD5):c.753AAG[1] (p.Arg252del)
NM_001378120.1(MBD5):c.754del (p.Arg252fs)
NM_001378120.1(MBD5):c.799C>T (p.His267Tyr)
NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr) rs768720064
NM_001378120.1(MBD5):c.80G>A (p.Arg27His) rs1706965994
NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)
NM_001378120.1(MBD5):c.842A>G (p.His281Arg) rs1680680479
NM_001378120.1(MBD5):c.890_891del (p.Ile297fs) rs796052719
NM_001378120.1(MBD5):c.8G>T (p.Gly3Val) rs794727807
NM_001378120.1(MBD5):c.904A>G (p.Thr302Ala) rs483352748
NM_001378120.1(MBD5):c.923C>T (p.Pro308Leu)
NM_001378120.1(MBD5):c.968T>C (p.Ile323Thr) rs2105627859
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001378120.1(MBD5):c.992A>C (p.Lys331Thr)
NM_001378120.1(MBD5):c.997C>T (p.Pro333Ser)
NM_018328.5(MBD5):c.1851T>C (p.His617=) rs372533114

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