ClinVar Miner

List of variants reported as uncertain significance 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: 108
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HGVS dbSNP gnomAD frequency
NM_001361.5(DHODH):c.*341C>T rs150996747 0.00205
NM_022458.4(LMBR1):c.-176G>A rs886062124 0.00170
NM_022458.4(LMBR1):c.*1150A>G rs560435795 0.00118
NM_022458.4(LMBR1):c.*2477G>A rs151167124 0.00116
NM_001361.5(DHODH):c.*383G>A rs180755493 0.00092
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) rs192923495 0.00088
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.*1841T>A rs1012360796 0.00034
NM_001361.5(DHODH):c.518-11G>A rs201023112 0.00028
NM_001361.5(DHODH):c.753C>A (p.Val251=) rs373893426 0.00021
NM_001361.5(DHODH):c.*980A>G rs766237954 0.00016
NM_001361.5(DHODH):c.570C>T (p.Ala190=) rs149123373 0.00016
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_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.*1608C>T rs749633714 0.00009
NM_001361.5(DHODH):c.*349A>C rs570935994 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_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.*2706A>G rs775444879 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_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.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.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_004247.4(EFTUD2):c.1783G>T (p.Val595Phe)
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.*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.1111T>G (p.Phe371Val) rs886062120
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.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

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