ClinVar Miner

List of variants studied for Meier-Gorlin syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 251
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_006739.4(MCM5):c.423+7C>T rs713618 0.56028
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_014321.4(ORC6):c.-20T>C rs33994299 0.33690
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.10516
NM_004153.4(ORC1):c.*231C>T rs3087471 0.04368
NM_004153.4(ORC1):c.568G>A (p.Val190Met) rs3087477 0.02312
NM_014321.4(ORC6):c.675T>C (p.Asp225=) rs34343511 0.01913
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) rs34521609 0.01742
NM_001254.4(CDC6):c.883G>A (p.Asp295Asn) rs4135012 0.01566
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482 0.01286
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) rs3087483 0.01081
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481 0.00702
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_001254.4(CDC6):c.896C>T (p.Thr299Met) rs4135013 0.00591
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_014321.4(ORC6):c.*598G>A rs201605699 0.00497
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473 0.00472
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) rs114426997 0.00382
NM_004153.4(ORC1):c.1584-4C>G rs114617697 0.00366
NM_014321.4(ORC6):c.*594A>G rs191163536 0.00350
NM_001254.4(CDC6):c.*733A>G rs544343681 0.00317
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser) rs145552478 0.00292
NM_181741.4(ORC4):c.604T>G (p.Leu202Val) rs73003466 0.00285
NM_014321.4(ORC6):c.-47G>A rs144065502 0.00280
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) rs34644009 0.00271
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) rs77077945 0.00224
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_004153.4(ORC1):c.403-7A>C rs199834691 0.00197
NM_004153.4(ORC1):c.402+12C>T rs138085865 0.00193
NM_001254.4(CDC6):c.712A>G (p.Thr238Ala) rs4135010 0.00192
NM_001254.4(CDC6):c.*358G>T rs575274633 0.00181
NM_004153.4(ORC1):c.*94C>T rs574908976 0.00141
NM_001254.4(CDC6):c.-36T>G rs527935093 0.00130
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala) rs139027440 0.00130
NM_001254.4(CDC6):c.165C>T (p.Pro55=) rs142289528 0.00097
NM_004153.4(ORC1):c.1671C>T (p.Ala557=) rs61756137 0.00097
NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln) rs142127656 0.00084
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro) rs61756136 0.00066
NM_004153.4(ORC1):c.2580C>T (p.Asp860=) rs61756139 0.00065
NM_004153.4(ORC1):c.1581A>G (p.Gly527=) rs141066689 0.00056
NM_003504.5(CDC45):c.1525A>G (p.Ile509Val) rs144764074 0.00044
NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg) rs144848215 0.00043
NM_014321.4(ORC6):c.*640G>A rs368055096 0.00042
NM_001254.4(CDC6):c.*653C>A rs4135033 0.00040
NM_001254.4(CDC6):c.897G>A (p.Thr299=) rs193186571 0.00040
NM_001254.4(CDC6):c.*747G>A rs4135034 0.00035
NM_001254.4(CDC6):c.*181A>G rs141386457 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_014321.4(ORC6):c.413C>A (p.Pro138Gln) rs3218745 0.00027
NM_001254.4(CDC6):c.799T>C (p.Leu267=) rs200407669 0.00025
NM_181741.4(ORC4):c.287A>G (p.Gln96Arg) rs138317624 0.00021
NM_030928.4(CDT1):c.1154G>A (p.Arg385His) rs143840572 0.00019
NM_001254.4(CDC6):c.*353T>G rs186404954 0.00018
NM_004153.4(ORC1):c.2382G>A (p.Thr794=) rs146844078 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_014321.4(ORC6):c.*232A>T rs531879095 0.00016
NM_014321.4(ORC6):c.*602A>G rs779826723 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_003504.5(CDC45):c.1416C>T (p.His472=) rs190155337 0.00014
NM_014321.4(ORC6):c.*307A>G rs547544453 0.00014
NM_014321.4(ORC6):c.207T>G (p.Ile69Met) rs138076975 0.00014
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) rs200672589 0.00011
NM_030928.4(CDT1):c.748C>T (p.Arg250Cys) rs199723040 0.00011
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440 0.00010
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys) rs540217942 0.00010
NM_004153.4(ORC1):c.1383T>C (p.Ser461=) rs200773796 0.00010
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) rs201253919 0.00010
NM_014321.4(ORC6):c.*582A>C rs570114406 0.00010
NM_030928.4(CDT1):c.999G>A (p.Pro333=) rs202026460 0.00010
NM_014321.4(ORC6):c.*576dup rs771626686 0.00009
NM_001254.4(CDC6):c.*511G>A rs886052905 0.00008
NM_004153.4(ORC1):c.1466A>T (p.Glu489Val) rs141749112 0.00008
NM_014321.4(ORC6):c.196-1G>A rs748927298 0.00007
NM_014321.4(ORC6):c.556G>T (p.Val186Phe) rs368692007 0.00007
NM_001254.4(CDC6):c.179-14T>C rs182086857 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp) rs201805499 0.00006
NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys) rs148581880 0.00006
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_014321.4(ORC6):c.*217C>T rs143138864 0.00006
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys) rs200652608 0.00006
NM_001254.4(CDC6):c.1133G>A (p.Arg378His) rs4135016 0.00005
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) rs202095223 0.00005
NM_017613.4(DONSON):c.494T>C (p.Phe165Ser) rs1010722195 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu) rs751663397 0.00004
NM_004153.4(ORC1):c.151C>G (p.Gln51Glu) rs182707743 0.00004
NM_004153.4(ORC1):c.2570C>T (p.Ala857Val) rs184915457 0.00004
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) rs200089121 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_001254.4(CDC6):c.1184+10G>A rs563505524 0.00003
NM_001254.4(CDC6):c.1512A>G (p.Ser504=) rs4135031 0.00003
NM_001254.4(CDC6):c.845T>C (p.Val282Ala) rs779528702 0.00003
NM_003504.5(CDC45):c.1021C>T (p.Arg341Trp) rs540900837 0.00003
NM_004153.4(ORC1):c.556T>C (p.Cys186Arg) rs760479580 0.00003
NM_014321.4(ORC6):c.23G>T (p.Arg8Leu) rs754832466 0.00003
NM_014321.4(ORC6):c.390A>T (p.Gln130His) rs372048763 0.00003
NM_014321.4(ORC6):c.450-4G>A rs886052013 0.00003
NM_014321.4(ORC6):c.96G>C (p.Arg32=) rs138213159 0.00003
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_001254.4(CDC6):c.1581C>G (p.Thr527=) rs754533557 0.00002
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly) rs754080445 0.00002
NM_004153.4(ORC1):c.1707T>C (p.Asn569=) rs376619175 0.00002
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln) rs387906828 0.00002
NM_004153.4(ORC1):c.289G>T (p.Ala97Ser) rs370667339 0.00002
NM_014321.4(ORC6):c.*363C>T rs768612856 0.00002
NM_014321.4(ORC6):c.-19T>C rs779856890 0.00002
NM_014321.4(ORC6):c.430G>A (p.Ala144Thr) rs1369065092 0.00002
NM_017613.4(DONSON):c.1634C>T (p.Pro545Leu) rs774616573 0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys) rs367904759 0.00002
NM_001254.4(CDC6):c.*414C>T rs886052904 0.00001
NM_001254.4(CDC6):c.*84G>A rs938053501 0.00001
NM_001254.4(CDC6):c.1556T>G (p.Leu519Ter) rs372396327 0.00001
NM_001254.4(CDC6):c.1591A>G (p.Lys531Glu) rs746864516 0.00001
NM_001254.4(CDC6):c.894C>T (p.Tyr298=) rs537454091 0.00001
NM_003504.5(CDC45):c.1487C>T (p.Pro496Leu) rs1376596361 0.00001
NM_003504.5(CDC45):c.318C>T (p.Val106=) rs745800041 0.00001
NM_004153.3(ORC1):c.-199C>G rs886046401 0.00001
NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln) rs886046397 0.00001
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys) rs373671398 0.00001
NM_004153.4(ORC1):c.2404C>T (p.His802Tyr) rs886046396 0.00001
NM_004153.4(ORC1):c.2418C>T (p.Cys806=) rs1485646346 0.00001
NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu) rs1222973227 0.00001
NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp) rs767264406 0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) rs387906827 0.00001
NM_004153.4(ORC1):c.387C>T (p.Ile129=) rs886046400 0.00001
NM_004153.4(ORC1):c.435G>A (p.Pro145=) rs886046398 0.00001
NM_004153.4(ORC1):c.535C>A (p.Pro179Thr) rs753124340 0.00001
NM_004153.4(ORC1):c.808G>A (p.Glu270Lys) rs1291867337 0.00001
NM_004153.4(ORC1):c.934C>T (p.Pro312Ser) rs772037188 0.00001
NM_005916.5(MCM7):c.1616A>G (p.Tyr539Cys) rs778583017 0.00001
NM_006739.4(MCM5):c.850_851del (p.Arg284fs) rs760621295 0.00001
NM_014321.4(ORC6):c.*479G>A rs533502054 0.00001
NM_014321.4(ORC6):c.*517G>A rs771044771 0.00001
NM_014321.4(ORC6):c.*621T>C rs758041096 0.00001
NM_014321.4(ORC6):c.*807G>A rs753486103 0.00001
NM_014321.4(ORC6):c.27A>G (p.Leu9=) rs758376049 0.00001
NM_014321.4(ORC6):c.32C>G (p.Pro11Arg) rs757562073 0.00001
NM_014321.4(ORC6):c.552G>A (p.Gln184=) rs74999515 0.00001
NM_014321.4(ORC6):c.592C>T (p.Arg198Trp) rs376209987 0.00001
NM_030928.4(CDT1):c.1125G>A (p.Met375Ile) rs779105998 0.00001
NM_030928.4(CDT1):c.196G>A (p.Ala66Thr) rs387906918 0.00001
NM_181741.4(ORC4):c.623C>G (p.Ser208Ter) rs535159793 0.00001
NM_181741.4(ORC4):c.870_873dup (p.Ala292fs) rs797044461 0.00001
NM_001190818.1(ORC1):c.2392-249_*3804del
NM_001254.4(CDC6):c.*358GTT[3] rs771752103
NM_001254.4(CDC6):c.*635G>T rs532345721
NM_001254.4(CDC6):c.-14+8G>C rs886052901
NM_001254.4(CDC6):c.1020G>A (p.Leu340=) rs181925915
NM_001254.4(CDC6):c.1084-15A>G rs2032841757
NM_001254.4(CDC6):c.129C>T (p.Thr43=) rs2032718073
NM_001254.4(CDC6):c.134CTC[1] (p.Pro46del) rs776043160
NM_001254.4(CDC6):c.464C>T (p.Thr155Ile) rs771381953
NM_001254.4(CDC6):c.508G>A (p.Asp170Asn) rs1156429588
NM_001254.4(CDC6):c.968C>G (p.Thr323Arg) rs387906842
NM_002388.6(MCM3):c.2282A>T (p.Gln761Leu) rs764129051
NM_003504.5(CDC45):c.(342+1_343-1)_(486+1_487-1)del
NM_003504.5(CDC45):c.1445_1448del (p.Lys482fs) rs1933800287
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.204G>A (p.Gln68=)
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.326_329dup (p.Asn111fs) rs752023208
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_003504.5(CDC45):c.791C>A (p.Ser264Tyr) rs151279621
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_004153.4(ORC1):c.*226G>C rs886046395
NM_004153.4(ORC1):c.-178C>T rs1647890881
NM_004153.4(ORC1):c.-5-12A>T rs983776269
NM_004153.4(ORC1):c.1025G>T (p.Gly342Val) rs1300402859
NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu) rs576163345
NM_004153.4(ORC1):c.1284A>C (p.Thr428=) rs776642973
NM_004153.4(ORC1):c.1482-2A>G rs1378348220
NM_004153.4(ORC1):c.1582G>A (p.Gly528Arg) rs1647126216
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro) rs2147923128
NM_004153.4(ORC1):c.189G>T (p.Pro63=) rs201244952
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile) rs1569920188
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs) rs1557573504
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter) rs1557567563
NM_004153.4(ORC1):c.2303+10T>C rs748117291
NM_004153.4(ORC1):c.237del (p.Pro80fs) rs1647490038
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp) rs778980446
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly) rs387906826
NM_004153.4(ORC1):c.392G>T (p.Gly131Val) rs886046399
NM_004153.4(ORC1):c.403-2A>C rs2147941262
NM_004153.4(ORC1):c.464T>C (p.Phe155Ser)
NM_004153.4(ORC1):c.521C>T (p.Ala174Val)
NM_004153.4(ORC1):c.688dup (p.Thr230fs)
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile) rs994616612
NM_004153.4(ORC1):c.[2483C>T;2484del]
NM_005916.5(MCM7):c.1579C>T (p.Arg527Ter) rs76705400
NM_005916.5(MCM7):c.415C>T (p.Gln139Ter) rs1054083917
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala) rs758105856
NM_006739.4(MCM5):c.1397C>T (p.Thr466Ile) rs1131692169
NM_006739.4(MCM5):c.830C>A (p.Thr277Asn) rs956123297
NM_014321.4(ORC6):c.*10C>G rs1405213929
NM_014321.4(ORC6):c.*115T>G rs886052014
NM_014321.4(ORC6):c.*170C>G rs577189944
NM_014321.4(ORC6):c.*452C>T rs768042955
NM_014321.4(ORC6):c.*524A>G rs1287188674
NM_014321.4(ORC6):c.*578AGAT[4] rs568119196
NM_014321.4(ORC6):c.*578AGAT[6] rs568119196
NM_014321.4(ORC6):c.*598delinsAGATGGATAGATAGATAGATA rs886052017
NM_014321.4(ORC6):c.*599GATA[10] rs60635029
NM_014321.4(ORC6):c.*599GATA[11] rs60635029
NM_014321.4(ORC6):c.*599GATA[13] rs60635029
NM_014321.4(ORC6):c.*599GATA[7] rs60635029
NM_014321.4(ORC6):c.*764_*767del rs756903337
NM_014321.4(ORC6):c.199del (p.Tyr67fs) rs1567273817
NM_014321.4(ORC6):c.1A>G (p.Met1Val) rs777153067
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) rs786205258
NM_014321.4(ORC6):c.360-13A>G rs797045853
NM_014321.4(ORC6):c.360-1G>T
NM_014321.4(ORC6):c.602_605del (p.Lys201fs) rs879255692
NM_014321.4(ORC6):c.65G>A (p.Arg22Lys) rs2143010039
NM_014321.4(ORC6):c.682C>G (p.Leu228Val) rs768760107
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) rs387906969
NM_014321.4(ORC6):c.71C>T (p.Ala24Val) rs1279789023
NM_015895.5(GMNN):c.16A>T (p.Lys6Ter) rs864309486
NM_015895.5(GMNN):c.276A>G (p.Glu92=) rs2113583678
NM_015895.5(GMNN):c.35_38del (p.Ile12fs) rs864309487
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg) rs864309488
NM_017613.4(DONSON):c.48del (p.Glu17fs) rs2145910302
NM_017613.4(DONSON):c.607-36G>A rs752810960
NM_017613.4(DONSON):c.631C>G (p.Arg211Gly) rs774052186
NM_017613.4(DONSON):c.631C>T (p.Arg211Cys) rs774052186
NM_018206.6(VPS35):c.-34G>A rs3743928
NM_030928.4(CDT1):c.1078_1080del (p.Ala360del) rs1567502140
NM_030928.4(CDT1):c.1276-24A>G rs2142945856
NM_030928.4(CDT1):c.1381C>A (p.Leu461Met)
NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter) rs147914553
NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)
NM_030928.4(CDT1):c.351G>C (p.Gln117His) rs779871947
NM_030928.4(CDT1):c.610G>A (p.Val204Met)
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
NM_030928.4(CDT1):c.802C>T (p.Gln268Ter) rs776483689
NM_030928.4(CDT1):c.832+1G>A rs587780305
NM_181741.4(ORC4):c.-17-11dup rs2307399
NM_181741.4(ORC4):c.1226del (p.Thr409fs) rs797045852
NM_181741.4(ORC4):c.1A>G (p.Met1Val) rs1085307083
NM_181741.4(ORC4):c.763-9del rs66919703
NM_181741.4(ORC4):c.866G>A (p.Arg289Gln)
NM_181741.4(ORC4):c.956A>G (p.His319Arg) rs2105259429
NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.