ClinVar Miner

List of variants reported as uncertain significance for acrofacial dysostosis by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 220
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HGVS dbSNP
NM_001104631.2(PDE4D):c.*1034C>T rs886060710
NM_001104631.2(PDE4D):c.*1268T>C rs886060709
NM_001104631.2(PDE4D):c.*1278C>T rs775984561
NM_001104631.2(PDE4D):c.*1295G>A
NM_001104631.2(PDE4D):c.*131T>C
NM_001104631.2(PDE4D):c.*1379A>G rs886060708
NM_001104631.2(PDE4D):c.*1446T>C rs886060707
NM_001104631.2(PDE4D):c.*1572A>G
NM_001104631.2(PDE4D):c.*1649C>T rs530824932
NM_001104631.2(PDE4D):c.*1729G>C
NM_001104631.2(PDE4D):c.*1778T>C
NM_001104631.2(PDE4D):c.*1924T>C rs749539498
NM_001104631.2(PDE4D):c.*2003T>C rs577458431
NM_001104631.2(PDE4D):c.*2004C>A rs760686759
NM_001104631.2(PDE4D):c.*2100C>T rs577109679
NM_001104631.2(PDE4D):c.*2185T>G
NM_001104631.2(PDE4D):c.*2198C>T
NM_001104631.2(PDE4D):c.*2225C>T
NM_001104631.2(PDE4D):c.*2369G>A rs796829320
NM_001104631.2(PDE4D):c.*2383G>A rs185766952
NM_001104631.2(PDE4D):c.*2604A>C
NM_001104631.2(PDE4D):c.*2653C>T rs13172038
NM_001104631.2(PDE4D):c.*2747G>A rs557226166
NM_001104631.2(PDE4D):c.*2841A>C
NM_001104631.2(PDE4D):c.*2999T>C rs200919800
NM_001104631.2(PDE4D):c.*3028A>G
NM_001104631.2(PDE4D):c.*310C>A
NM_001104631.2(PDE4D):c.*3210A>G
NM_001104631.2(PDE4D):c.*3325T>C
NM_001104631.2(PDE4D):c.*3418T>C
NM_001104631.2(PDE4D):c.*3492T>G
NM_001104631.2(PDE4D):c.*3562T>C rs886060706
NM_001104631.2(PDE4D):c.*3844G>A rs886060705
NM_001104631.2(PDE4D):c.*3863T>C
NM_001104631.2(PDE4D):c.*3875G>A rs886060704
NM_001104631.2(PDE4D):c.*3892G>A
NM_001104631.2(PDE4D):c.*403G>A
NM_001104631.2(PDE4D):c.*414T>C
NM_001104631.2(PDE4D):c.*421A>G rs886060715
NM_001104631.2(PDE4D):c.*4513C>T rs886060703
NM_001104631.2(PDE4D):c.*4524C>T
NM_001104631.2(PDE4D):c.*4529C>T
NM_001104631.2(PDE4D):c.*4703A>G
NM_001104631.2(PDE4D):c.*4727C>G
NM_001104631.2(PDE4D):c.*4886A>C
NM_001104631.2(PDE4D):c.*4981C>G
NM_001104631.2(PDE4D):c.*5000A>G rs886060702
NM_001104631.2(PDE4D):c.*5201G>A
NM_001104631.2(PDE4D):c.*5283A>G rs866638632
NM_001104631.2(PDE4D):c.*5295G>T rs143961299
NM_001104631.2(PDE4D):c.*535A>G
NM_001104631.2(PDE4D):c.*5413G>C rs538935097
NM_001104631.2(PDE4D):c.*5545C>A rs886060700
NM_001104631.2(PDE4D):c.*58G>A
NM_001104631.2(PDE4D):c.*649T>G rs886060713
NM_001104631.2(PDE4D):c.*780G>C rs886060712
NM_001104631.2(PDE4D):c.-55C>T rs886060716
NM_001104631.2(PDE4D):c.1188+15A>G
NM_001104631.2(PDE4D):c.1189-4C>G
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro)
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val)
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=) rs375617990
NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser)
NM_001104631.2(PDE4D):c.1707+12A>C
NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=) rs371404288
NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe)
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=) rs538879121
NM_001104631.2(PDE4D):c.225G>A (p.Pro75=)
NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly)
NM_001104631.2(PDE4D):c.2355A>C (p.Glu785Asp)
NM_001104631.2(PDE4D):c.2366T>A (p.Val789Glu)
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=)
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr)
NM_001276290.1(PRKAR1A):c.973+3439G>T
NM_001361.5(DHODH):c.*1035_*1038del rs886052283
NM_001361.5(DHODH):c.*144G>A
NM_001361.5(DHODH):c.*189C>T rs750442401
NM_001361.5(DHODH):c.*216G>A
NM_001361.5(DHODH):c.*341C>T
NM_001361.5(DHODH):c.*349A>C
NM_001361.5(DHODH):c.*372C>T
NM_001361.5(DHODH):c.*383G>A
NM_001361.5(DHODH):c.*500G>A rs886052281
NM_001361.5(DHODH):c.*645T>C
NM_001361.5(DHODH):c.*64C>G rs886052280
NM_001361.5(DHODH):c.*795C>T
NM_001361.5(DHODH):c.*819A>G rs886052282
NM_001361.5(DHODH):c.*841G>A rs764720601
NM_001361.5(DHODH):c.*936T>C
NM_001361.5(DHODH):c.*980A>G rs766237954
NM_001361.5(DHODH):c.1009A>T (p.Ser337Cys) rs376142632
NM_001361.5(DHODH):c.1020C>T (p.Asp340=)
NM_001361.5(DHODH):c.1043G>C (p.Gly348Ala)
NM_001361.5(DHODH):c.1048T>G (p.Ser350Ala)
NM_001361.5(DHODH):c.14A>G (p.His5Arg)
NM_001361.5(DHODH):c.154G>C (p.Glu52Gln) rs368395651
NM_001361.5(DHODH):c.22-11C>T rs770515591
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766
NM_001361.5(DHODH):c.492G>T (p.Gln164His) rs768224976
NM_001361.5(DHODH):c.498G>A (p.Lys166=)
NM_001361.5(DHODH):c.505A>C (p.Lys169Gln)
NM_001361.5(DHODH):c.517+8G>A rs758925798
NM_001361.5(DHODH):c.518-11G>A
NM_001361.5(DHODH):c.546G>T (p.Gly182=)
NM_001361.5(DHODH):c.570C>T (p.Ala190=) rs149123373
NM_001361.5(DHODH):c.606C>T (p.Gly202=)
NM_001361.5(DHODH):c.655G>A (p.Gly219Arg) rs369556950
NM_001361.5(DHODH):c.666C>G (p.Ser222Arg) rs528598713
NM_001361.5(DHODH):c.681C>T (p.Ala227=) rs776932166
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) rs201202896
NM_001361.5(DHODH):c.72C>G (p.Phe24Leu)
NM_001361.5(DHODH):c.73G>A (p.Ala25Thr)
NM_001361.5(DHODH):c.753C>A (p.Val251=) rs373893426
NM_001361.5(DHODH):c.804C>T (p.Ala268=) rs374538940
NM_001361.5(DHODH):c.807T>A (p.Ser269Arg) rs886052277
NM_001361.5(DHODH):c.820T>C (p.Leu274=) rs886052278
NM_001361.5(DHODH):c.869C>T (p.Ala290Val) rs199626701
NM_001361.5(DHODH):c.881G>A (p.Gly294Asp) rs369181023
NM_001361.5(DHODH):c.890G>A (p.Arg297His) rs200181357
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) rs192923495
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
NM_002734.5(PRKAR1A):c.*1003C>T
NM_002734.5(PRKAR1A):c.*1085G>A
NM_002734.5(PRKAR1A):c.*1111C>G
NM_002734.5(PRKAR1A):c.*1640C>T
NM_002734.5(PRKAR1A):c.*1687T>C
NM_002734.5(PRKAR1A):c.*1838A>T
NM_002734.5(PRKAR1A):c.*1949G>T
NM_002734.5(PRKAR1A):c.*2089A>G
NM_002734.5(PRKAR1A):c.*2114G>A
NM_002734.5(PRKAR1A):c.*2152T>C
NM_002734.5(PRKAR1A):c.*233C>T
NM_002734.5(PRKAR1A):c.*2940G>A
NM_002734.5(PRKAR1A):c.*299T>G
NM_002734.5(PRKAR1A):c.*331G>A
NM_002734.5(PRKAR1A):c.*384C>T
NM_002734.5(PRKAR1A):c.*535T>G
NM_002734.5(PRKAR1A):c.*560G>A
NM_002734.5(PRKAR1A):c.*609C>G
NM_002734.5(PRKAR1A):c.*812A>G
NM_002734.5(PRKAR1A):c.-11C>T
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys)
NM_002734.5(PRKAR1A):c.770-8T>G
NM_005850.4(SF3B4):c.-255A>C rs28362636
NM_005850.4(SF3B4):c.-263dupA rs762430957
NM_005850.5(SF3B4):c.1110G>A (p.Pro370=) rs782435530
NM_005850.5(SF3B4):c.148A>G (p.Thr50Ala) rs886045256
NM_005850.5(SF3B4):c.600G>A (p.Pro200=) rs148753561
NM_005850.5(SF3B4):c.707-8C>A rs371485646
NM_153717.3(EVC):c.*104G>A rs753484436
NM_153717.3(EVC):c.*1069A>G rs13147953
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1403C>T rs547015924
NM_153717.3(EVC):c.*1568C>T rs886059514
NM_153717.3(EVC):c.*1684A>G rs886059515
NM_153717.3(EVC):c.*1981A>G rs886059516
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*263T>C rs575488876
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*2922A>C rs886059518
NM_153717.3(EVC):c.*3161A>C rs550678702
NM_153717.3(EVC):c.*3170T>C rs886059519
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*662G>A rs866110948
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*869A>G rs79612644
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*907C>T rs71599839
NM_153717.3(EVC):c.-138_-137GA[1] rs886059494
NM_153717.3(EVC):c.-139G>A rs779841092
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2305-5C>G rs760071065
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200
NM_153717.3(EVC):c.802-12C>T rs61514191
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610
NM_212472.2(PRKAR1A):c.*1014A>G rs886053311
NM_212472.2(PRKAR1A):c.*1062A>G rs752303671
NM_212472.2(PRKAR1A):c.*1168A>T rs886053313
NM_212472.2(PRKAR1A):c.*1346A>G rs545417998
NM_212472.2(PRKAR1A):c.*1487C>T rs886053314
NM_212472.2(PRKAR1A):c.*156C>T rs535007635
NM_212472.2(PRKAR1A):c.*1839G>A rs886053316
NM_212472.2(PRKAR1A):c.*1842A>T rs886053317
NM_212472.2(PRKAR1A):c.*2018C>T rs540185706
NM_212472.2(PRKAR1A):c.*2067T>C rs886053318
NM_212472.2(PRKAR1A):c.*2072G>A rs886053319
NM_212472.2(PRKAR1A):c.*2196C>T rs886053320
NM_212472.2(PRKAR1A):c.*2197G>A rs533508012
NM_212472.2(PRKAR1A):c.*389T>G rs886053307
NM_212472.2(PRKAR1A):c.*526G>A rs886053308
NM_212472.2(PRKAR1A):c.*704T>G rs886053310
NM_212472.2(PRKAR1A):c.*722A>G rs555951287
NM_212472.2(PRKAR1A):c.*724T>A rs746409603
NM_212472.2(PRKAR1A):c.*893G>C rs186568426
NM_212472.2(PRKAR1A):c.-200T>A
NM_212472.2(PRKAR1A):c.-47C>A rs886053305
NM_212472.2(PRKAR1A):c.-56C>T rs546338099
NM_212472.2(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_212472.2(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247

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