ClinVar Miner

List of variants studied for Meier-Gorlin syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_014321.4(ORC6):c.-20T>C rs33994299 0.33690
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_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_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.1318T>C (p.Ser440Pro) rs61756136 0.00066
NM_004153.4(ORC1):c.2580C>T (p.Asp860=) rs61756139 0.00065
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_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.*307A>G rs547544453 0.00014
NM_014321.4(ORC6):c.207T>G (p.Ile69Met) rs138076975 0.00014
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440 0.00010
NM_004153.4(ORC1):c.1383T>C (p.Ser461=) rs200773796 0.00010
NM_014321.4(ORC6):c.*582A>C rs570114406 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_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_001254.4(CDC6):c.1133G>A (p.Arg378His) rs4135016 0.00005
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_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_004153.4(ORC1):c.556T>C (p.Cys186Arg) rs760479580 0.00003
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) rs202095223 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_001254.4(CDC6):c.1581C>G (p.Thr527=) rs754533557 0.00002
NM_004153.4(ORC1):c.1707T>C (p.Asn569=) rs376619175 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_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_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.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.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_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_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_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.189G>T (p.Pro63=) rs201244952
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter) rs1557567563
NM_004153.4(ORC1):c.2303+10T>C rs748117291
NM_004153.4(ORC1):c.392G>T (p.Gly131Val) rs886046399
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile) rs994616612
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.682C>G (p.Leu228Val) rs768760107
NM_018206.6(VPS35):c.-34G>A rs3743928

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