ClinVar Miner

List of variants studied for acrofacial dysostosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001361.5(DHODH):c.*1051A>G rs2287999 0.55850
NM_001361.5(DHODH):c.*783A>G rs2288000 0.55819
NM_001361.5(DHODH):c.*1171T>C rs2287998 0.55799
NM_001361.5(DHODH):c.*574G>T rs2288001 0.55770
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_022458.4(LMBR1):c.*383T>C rs3487 0.17784
NM_022458.4(LMBR1):c.*1325C>T rs1053214 0.17503
NM_022458.4(LMBR1):c.*2089G>A rs17837686 0.13188
NM_001361.5(DHODH):c.*569G>A rs113365769 0.10579
NM_022458.4(LMBR1):c.1092C>T (p.Val364=) rs59912051 0.10405
NM_022458.4(LMBR1):c.*89A>T rs3735186 0.08395
NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala) rs6957768 0.07428
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_001361.4(DHODH):c.-29A>G rs34270657 0.06520
NM_022458.4(LMBR1):c.*1444T>G rs17837687 0.04775
NM_001361.5(DHODH):c.*595C>T rs111810095 0.04483
NM_001361.5(DHODH):c.*612T>C rs7191724 0.04342
NM_022458.4(LMBR1):c.*1971A>T rs12530942 0.03709
NM_022458.4(LMBR1):c.357T>C (p.Cys119=) rs112583005 0.03004
NM_022458.4(LMBR1):c.*91C>T rs75853117 0.02727
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) rs61733129 0.02206
NM_022458.4(LMBR1):c.*2603A>G rs1014236 0.02144
NM_022458.4(LMBR1):c.*1922A>G rs75582340 0.01984
NM_022458.4(LMBR1):c.*722G>C rs11982416 0.01743
NM_022458.4(LMBR1):c.*1905C>G rs115581794 0.01706
NM_001361.5(DHODH):c.819+10G>A rs114267707 0.01597
NM_001361.5(DHODH):c.*1014C>T rs79926352 0.01533
NM_001361.5(DHODH):c.*748C>T rs117655998 0.01294
NM_022458.4(LMBR1):c.*15G>A rs78838110 0.00995
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_001361.5(DHODH):c.573G>A (p.Ala191=) rs148523165 0.00894
NM_022458.4(LMBR1):c.*2489T>C rs191993720 0.00644
NM_001361.5(DHODH):c.*404G>A rs150155845 0.00579
NM_001361.5(DHODH):c.*868A>G rs149599098 0.00547
NM_022458.4(LMBR1):c.*1797G>C rs113036233 0.00464
NM_022458.4(LMBR1):c.*303T>C rs115465818 0.00434
NM_022458.4(LMBR1):c.*685G>A rs149399222 0.00426
NM_001361.5(DHODH):c.457C>A (p.Leu153Ile) rs61741731 0.00410
NM_022458.4(LMBR1):c.*2609C>T rs114295738 0.00371
NM_022458.4(LMBR1):c.*36C>T rs79881605 0.00349
NM_022458.4(LMBR1):c.*100T>G rs111554843 0.00347
NM_022458.4(LMBR1):c.*3207T>G rs116521088 0.00342
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_001361.5(DHODH):c.*139C>T rs140263128 0.00282
NM_022458.4(LMBR1):c.*2081G>A rs113867033 0.00235
NM_001361.5(DHODH):c.294C>T (p.Asp98=) rs61747639 0.00227
NM_001361.5(DHODH):c.*341C>T rs150996747 0.00205
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu) rs79673084 0.00195
NM_022458.4(LMBR1):c.-176G>A rs886062124 0.00170
NM_001361.5(DHODH):c.72C>T (p.Phe24=) rs61753576 0.00163
NM_022458.4(LMBR1):c.*1357A>G rs568810522 0.00153
NM_022458.4(LMBR1):c.*2926G>C rs148658727 0.00148
NM_001361.5(DHODH):c.765C>T (p.Ile255=) rs61757214 0.00128
NM_022458.4(LMBR1):c.*1150A>G rs560435795 0.00118
NM_022458.4(LMBR1):c.*2477G>A rs151167124 0.00116
NM_022458.4(LMBR1):c.*1359G>A rs565001458 0.00115
NM_022458.4(LMBR1):c.*1061A>G rs138905233 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_001361.5(DHODH):c.*383G>A rs180755493 0.00092
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) rs192923495 0.00088
NM_022458.4(LMBR1):c.*2065A>G rs146931391 0.00077
NM_022458.4(LMBR1):c.843G>A (p.Arg281=) rs140806590 0.00077
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys) rs139646169 0.00069
NM_001361.5(DHODH):c.*1088T>C rs567852382 0.00063
NM_022458.4(LMBR1):c.*1469C>T rs184156281 0.00061
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_001361.5(DHODH):c.*936T>C rs763009216 0.00053
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) rs201202896 0.00051
NM_001361.5(DHODH):c.*144G>A rs144226636 0.00048
NM_001361.5(DHODH):c.804C>T (p.Ala268=) rs374538940 0.00048
NM_001361.5(DHODH):c.890G>A (p.Arg297His) rs200181357 0.00045
NM_022458.4(LMBR1):c.*2667A>T rs187134101 0.00037
NM_022458.4(LMBR1):c.*2761G>A rs182572414 0.00035
NM_022458.4(LMBR1):c.*1841T>A rs1012360796 0.00034
NM_001361.5(DHODH):c.518-11G>A rs201023112 0.00028
NM_001361.5(DHODH):c.*252C>T rs147792232 0.00025
NM_022458.4(LMBR1):c.*2905T>A rs574914124 0.00025
NM_022458.4(LMBR1):c.*11C>T rs375283454 0.00024
NM_022458.4(LMBR1):c.462T>G (p.Leu154=) rs765231166 0.00023
NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro) rs201194692 0.00022
NM_001361.5(DHODH):c.753C>A (p.Val251=) rs373893426 0.00021
NM_001361.5(DHODH):c.*14C>T rs370049658 0.00016
NM_001361.5(DHODH):c.*980A>G rs766237954 0.00016
NM_001361.5(DHODH):c.570C>T (p.Ala190=) rs149123373 0.00016
NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val) rs140722848 0.00015
NM_001361.5(DHODH):c.*841G>A rs764720601 0.00014
NM_001361.5(DHODH):c.655G>A (p.Gly219Arg) rs369556950 0.00013
NM_001361.5(DHODH):c.881G>A (p.Gly294Asp) rs369181023 0.00013
NM_022458.4(LMBR1):c.*2500A>G rs566692462 0.00013
NM_022458.4(LMBR1):c.*728G>A rs886062116 0.00012
NM_022458.4(LMBR1):c.*2596A>G rs550168152 0.00011
NM_022458.4(LMBR1):c.-91C>G rs3735184 0.00011
NM_022458.4(LMBR1):c.432A>G (p.Arg144=) rs141871054 0.00011
NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr) rs367632078 0.00011
NM_001361.5(DHODH):c.*819A>G rs886052282 0.00010
NM_001361.5(DHODH):c.1009A>T (p.Ser337Cys) rs376142632 0.00010
NM_022458.4(LMBR1):c.*2016C>T rs529448700 0.00010
NM_022458.4(LMBR1):c.*305G>A rs771023322 0.00010
NM_005850.4(SF3B4):c.-263dup rs762430957 0.00009
NM_022458.4(LMBR1):c.*1470G>A rs549976103 0.00009
NM_022458.4(LMBR1):c.*1608C>T rs749633714 0.00009
NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu) rs182641358 0.00009
NM_001361.5(DHODH):c.*349A>C rs570935994 0.00008
NM_022458.4(LMBR1):c.474G>A (p.Ala158=) rs201832150 0.00008
NM_001361.5(DHODH):c.606C>T (p.Gly202=) rs573177564 0.00007
NM_022458.4(LMBR1):c.*1172C>T rs1163939803 0.00007
NM_022458.4(LMBR1):c.*2297C>T rs367713862 0.00007
NM_001361.5(DHODH):c.*1174T>G rs148338434 0.00006
NM_001361.5(DHODH):c.*795C>T rs1042981090 0.00006
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766 0.00006
NM_022458.4(LMBR1):c.*1358C>T rs150263103 0.00006
NM_022458.4(LMBR1):c.*2066G>C rs560208746 0.00006
NM_022458.4(LMBR1):c.*2706A>G rs775444879 0.00006
NM_022458.4(LMBR1):c.1026G>A (p.Thr342=) rs140247020 0.00006
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) rs147215221 0.00006
NM_001361.5(DHODH):c.*372C>T rs140832357 0.00005
NM_001361.5(DHODH):c.154G>C (p.Glu52Gln) rs368395651 0.00005
NM_022458.4(LMBR1):c.*2088C>T rs185766032 0.00005
NM_022458.4(LMBR1):c.*2820G>A rs550075183 0.00005
NM_001361.5(DHODH):c.*645T>C rs1324665374 0.00004
NM_001361.5(DHODH):c.1020C>T (p.Asp340=) rs199666119 0.00004
NM_001361.5(DHODH):c.517+8G>A rs758925798 0.00004
NM_022458.4(LMBR1):c.*2020T>C rs567467797 0.00004
NM_022458.4(LMBR1):c.*2262G>A rs911647400 0.00004
NM_022458.4(LMBR1):c.204C>T (p.Leu68=) rs766669976 0.00004
NM_022458.4(LMBR1):c.350A>G (p.Asn117Ser) rs568570543 0.00004
NM_001361.5(DHODH):c.492G>T (p.Gln164His) rs768224976 0.00003
NM_001361.5(DHODH):c.869C>T (p.Ala290Val) rs199626701 0.00003
NM_022458.4(LMBR1):c.*2147T>C rs1273499025 0.00003
NM_022458.4(LMBR1):c.*246G>A rs745661512 0.00003
NM_022458.4(LMBR1):c.*2798C>T rs746253016 0.00003
NM_022458.4(LMBR1):c.*3180A>C rs886062110 0.00003
NM_022458.4(LMBR1):c.*3187A>G rs866814626 0.00003
NM_022458.4(LMBR1):c.-158G>A rs886062123 0.00003
NM_001361.5(DHODH):c.*64C>G rs886052280 0.00001
NM_001361.5(DHODH):c.1043G>C (p.Gly348Ala) rs988000600 0.00001
NM_001361.5(DHODH):c.22-11C>T rs770515591 0.00001
NM_001361.5(DHODH):c.546G>T (p.Gly182=) rs954515669 0.00001
NM_001361.5(DHODH):c.666C>G (p.Ser222Arg) rs528598713 0.00001
NM_001361.5(DHODH):c.681C>T (p.Ala227=) rs776932166 0.00001
NM_001361.5(DHODH):c.807T>A (p.Ser269Arg) rs886052277 0.00001
NM_001361.5(DHODH):c.820T>C (p.Leu274=) rs886052278 0.00001
NM_022458.4(LMBR1):c.*1363G>T rs1032886313 0.00001
NM_022458.4(LMBR1):c.*1560T>A rs1307260930 0.00001
NM_022458.4(LMBR1):c.*245C>T rs1036026971 0.00001
NM_022458.4(LMBR1):c.*2658T>C rs1205792107 0.00001
NM_022458.4(LMBR1):c.*457C>G rs886062118 0.00001
NM_022458.4(LMBR1):c.-154G>A rs886062122 0.00001
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) rs757854346 0.00001
NM_022458.4(LMBR1):c.1159-3C>T rs369446617 0.00001
NM_022458.4(LMBR1):c.165C>T (p.Ile55=) rs752415935 0.00001
NM_022458.4(LMBR1):c.435C>T (p.Ala145=) rs563054181 0.00001
NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr) rs148974610 0.00001
NM_022458.4(LMBR1):c.627A>G (p.Thr209=) rs1227969762 0.00001
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_001361.5(DHODH):c.*1035_*1038del rs886052283
NM_001361.5(DHODH):c.*189C>T rs750442401
NM_001361.5(DHODH):c.*216G>A rs549374844
NM_001361.5(DHODH):c.*500G>A rs886052281
NM_001361.5(DHODH):c.1048T>G (p.Ser350Ala) rs770803023
NM_001361.5(DHODH):c.14A>G (p.His5Arg) rs1430616655
NM_001361.5(DHODH):c.498G>A (p.Lys166=) rs199920621
NM_001361.5(DHODH):c.505A>C (p.Lys169Gln) rs1243279715
NM_001361.5(DHODH):c.72C>G (p.Phe24Leu) rs61753576
NM_001361.5(DHODH):c.73G>A (p.Ala25Thr) rs200549060
NM_001361.5(DHODH):c.959A>C (p.Tyr320Ser) rs886052279
NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys) rs886052279
NM_001361.5(DHODH):c.973+11C>T rs2041242918
NM_022458.4(LMBR1):c.*1259C>T rs1180240267
NM_022458.4(LMBR1):c.*1347A>G rs1805281351
NM_022458.4(LMBR1):c.*1534A>G rs886062114
NM_022458.4(LMBR1):c.*166G>T rs886062119
NM_022458.4(LMBR1):c.*1862T>A rs886062113
NM_022458.4(LMBR1):c.*2080C>T rs970281844
NM_022458.4(LMBR1):c.*2198C>G rs116037533
NM_022458.4(LMBR1):c.*2451C>A rs1351176342
NM_022458.4(LMBR1):c.*2458A>G rs1805049784
NM_022458.4(LMBR1):c.*2519T>A rs772161675
NM_022458.4(LMBR1):c.*2744G>T rs886062112
NM_022458.4(LMBR1):c.*2771G>A rs756411300
NM_022458.4(LMBR1):c.*2773G>T rs886062111
NM_022458.4(LMBR1):c.*2899A>T rs748449219
NM_022458.4(LMBR1):c.*2948G>T rs777769323
NM_022458.4(LMBR1):c.*650A>G rs886062117
NM_022458.4(LMBR1):c.*916C>A rs182736380
NM_022458.4(LMBR1):c.-146C>T rs751044177
NM_022458.4(LMBR1):c.1095C>T (p.Gly365=) rs60299355
NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val) rs886062120
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) rs376730383
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu) rs886062121
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) rs756376000
NM_022458.4(LMBR1):c.528C>G (p.Ala176=) rs138255184
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) rs1816107259
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826

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