ClinVar Miner

List of variants studied for obsolete acrodysostosis with multiple hormone resistance by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001104631.2(PDE4D):c.1287+6G>A rs1553114 0.81559
NM_001104631.2(PDE4D):c.*2934G>A rs702530 0.65587
NM_001104631.2(PDE4D):c.*4001C>G rs829258 0.65535
NM_001104631.2(PDE4D):c.*2515A>T rs829259 0.58301
NM_001104631.2(PDE4D):c.*4039G>T rs10071088 0.16172
NM_001104631.2(PDE4D):c.*5118T>G rs11959349 0.16159
NM_001104631.2(PDE4D):c.*1638G>A rs10075508 0.16154
NM_001104631.2(PDE4D):c.*4915C>T rs13160982 0.16152
NM_001104631.2(PDE4D):c.*4965G>T rs11956001 0.16146
NM_001104631.2(PDE4D):c.*1938C>T rs10940636 0.16145
NM_001104631.2(PDE4D):c.*5260T>C rs11950492 0.16137
NM_001104631.2(PDE4D):c.*2279G>T rs12658211 0.16082
NM_001104631.2(PDE4D):c.*2288A>G rs10036063 0.16069
NM_001104631.2(PDE4D):c.*2484T>C rs10035437 0.16055
NM_001104631.2(PDE4D):c.*5241T>C rs11950495 0.07267
NM_001104631.2(PDE4D):c.*4886A>C rs17291089 0.07219
NM_001104631.2(PDE4D):c.*4660C>T rs79996648 0.03708
NM_001104631.2(PDE4D):c.*4659T>G rs75820400 0.03706
NM_001104631.2(PDE4D):c.*2329G>A rs74710642 0.02975
NM_001104631.2(PDE4D):c.*1773A>G rs829260 0.02156
NM_001104631.2(PDE4D):c.1452+8T>C rs78773396 0.02142
NM_001104631.2(PDE4D):c.*5125C>T rs829257 0.02116
NM_001104631.2(PDE4D):c.2427G>A (p.Thr809=) rs7736186 0.01589
NM_001104631.2(PDE4D):c.*1850T>C rs77207456 0.01493
NM_001104631.2(PDE4D):c.*2066T>C rs73758090 0.01394
NM_001104631.2(PDE4D):c.456-12C>T rs114278541 0.01159
NM_001104631.2(PDE4D):c.*4398T>G rs74874819 0.00664
NM_002734.5(PRKAR1A):c.*795G>T rs150031305 0.00544
NM_001104631.2(PDE4D):c.1692A>G (p.Lys564=) rs115807337 0.00540
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_001104631.2(PDE4D):c.*2100C>T rs577109679 0.00280
NM_001104631.2(PDE4D):c.*1323A>T rs149834563 0.00275
NM_001104631.2(PDE4D):c.*3214T>A rs188938118 0.00251
NM_001104631.2(PDE4D):c.*2653C>T rs13172038 0.00201
NM_001104631.2(PDE4D):c.-58G>T rs561124800 0.00188
NM_001104631.2(PDE4D):c.*2747G>A rs557226166 0.00156
NM_001104631.2(PDE4D):c.*5304C>T rs142429682 0.00148
NM_002734.5(PRKAR1A):c.*2844A>C rs144560276 0.00147
NM_001104631.2(PDE4D):c.*2510C>T rs576580458 0.00131
NM_001104631.2(PDE4D):c.*2336T>G rs548172452 0.00120
NM_001104631.2(PDE4D):c.*1637C>T rs190993206 0.00117
NM_001104631.2(PDE4D):c.*4622G>T rs532407753 0.00115
NM_001104631.2(PDE4D):c.*535A>G rs781074391 0.00103
NM_002734.5(PRKAR1A):c.*1057G>A rs373618236 0.00085
NM_001104631.2(PDE4D):c.*3349T>A rs72764043 0.00078
NM_001104631.2(PDE4D):c.*831A>C rs369129936 0.00071
NM_001104631.2(PDE4D):c.*5295G>T rs143961299 0.00061
NM_002734.5(PRKAR1A):c.*2197G>A rs533508012 0.00058
NM_002734.5(PRKAR1A):c.-16C>A rs886053305 0.00057
NM_001104631.2(PDE4D):c.891G>A (p.Arg297=) rs369034280 0.00053
NM_001104631.2(PDE4D):c.339G>A (p.Glu113=) rs370095823 0.00052
NM_001104631.2(PDE4D):c.*4675G>A rs536451907 0.00050
NM_002734.5(PRKAR1A):c.*893G>C rs186568426 0.00049
NM_001104631.2(PDE4D):c.*403G>A rs752738157 0.00041
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_001104631.2(PDE4D):c.*2003T>C rs577458431 0.00034
NM_001104631.2(PDE4D):c.*2004C>A rs760686759 0.00034
NM_002734.5(PRKAR1A):c.*722A>G rs555951287 0.00033
NM_001104631.2(PDE4D):c.*3588A>C rs547764520 0.00027
NM_002734.5(PRKAR1A):c.-25C>T rs546338099 0.00026
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=) rs200592054 0.00026
NM_002734.5(PRKAR1A):c.*1687T>C rs986574420 0.00024
NM_001104631.2(PDE4D):c.*414T>C rs1030455444 0.00023
NM_002734.5(PRKAR1A):c.*1346A>G rs545417998 0.00021
NM_002734.5(PRKAR1A):c.*233C>T rs531560526 0.00021
NM_002734.5(PRKAR1A):c.*384C>T rs142203044 0.00021
NM_001104631.2(PDE4D):c.*3863T>C rs866405146 0.00019
NM_001104631.2(PDE4D):c.*1268T>C rs886060709 0.00016
NM_001104631.2(PDE4D):c.*310C>A rs558677290 0.00015
NM_002734.5(PRKAR1A):c.*724T>A rs746409603 0.00015
NM_001104631.2(PDE4D):c.*58G>A rs963578789 0.00014
NM_002734.5(PRKAR1A):c.*2196C>T rs886053320 0.00014
NM_001104631.2(PDE4D):c.*1924T>C rs749539498 0.00013
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln) rs372946517 0.00013
NM_002734.5(PRKAR1A):c.*1014A>G rs886053311 0.00013
NM_002734.5(PRKAR1A):c.*1606A>G rs144632545 0.00013
NM_001104631.2(PDE4D):c.*2604A>C rs542930751 0.00012
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=) rs141432364 0.00012
NM_001104631.2(PDE4D):c.*1034C>T rs886060710 0.00011
NM_001104631.2(PDE4D):c.*3492T>G rs949531257 0.00011
NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser) rs757175453 0.00011
NM_001104631.2(PDE4D):c.*1295G>A rs556877242 0.00010
NM_001104631.2(PDE4D):c.1041T>C (p.Pro347=) rs767986152 0.00010
NM_001104631.2(PDE4D):c.*1278C>T rs775984561 0.00009
NM_001104631.2(PDE4D):c.*1572A>G rs961856114 0.00009
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=) rs1345148257 0.00009
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504 0.00009
NM_001104631.2(PDE4D):c.*4703A>G rs186917544 0.00007
NM_002734.5(PRKAR1A):c.*1062A>G rs752303671 0.00007
NM_002734.5(PRKAR1A):c.*331G>A rs1001484586 0.00007
NM_002734.5(PRKAR1A):c.*156C>T rs535007635 0.00006
NM_001104631.2(PDE4D):c.*1361C>T rs187518449 0.00005
NM_001104631.2(PDE4D):c.*2383G>A rs185766952 0.00005
NM_001104631.2(PDE4D):c.*3875G>A rs886060704 0.00005
NM_001104631.2(PDE4D):c.*3892G>A rs1046069326 0.00005
NM_001104631.2(PDE4D):c.*5283A>G rs866638632 0.00005
NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=) rs369906474 0.00005
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr) rs749222606 0.00005
NM_001104631.2(PDE4D):c.*2369G>A rs796829320 0.00004
NM_001104631.2(PDE4D):c.*2999T>C rs200919800 0.00004
NM_001104631.2(PDE4D):c.*4513C>T rs886060703 0.00004
NM_001104631.2(PDE4D):c.*5000A>G rs886060702 0.00004
NM_001104631.2(PDE4D):c.*649T>G rs886060713 0.00004
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=) rs375617990 0.00004
NM_002734.5(PRKAR1A):c.*1085G>A rs994798970 0.00004
NM_002734.5(PRKAR1A):c.*2940G>A rs2086029597 0.00004
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=) rs117639566 0.00004
NM_001104631.2(PDE4D):c.*1649C>T rs530824932 0.00003
NM_001104631.2(PDE4D):c.*3418T>C rs1466070150 0.00003
NM_001104631.2(PDE4D):c.*421A>G rs886060715 0.00003
NM_001104631.2(PDE4D):c.1189-4C>G rs748827625 0.00003
NM_001104631.2(PDE4D):c.2401G>A (p.Val801Ile) rs747415773 0.00003
NM_001104631.2(PDE4D):c.705T>C (p.Thr235=) rs199590419 0.00003
NM_002734.5(PRKAR1A):c.*1487C>T rs886053314 0.00003
NM_002734.5(PRKAR1A):c.*299T>G rs569225886 0.00003
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) rs753621663 0.00003
NM_001104631.2(PDE4D):c.-55C>T rs886060716 0.00002
NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp) rs750666346 0.00002
NM_001104631.2(PDE4D):c.1831-7A>G rs766871489 0.00002
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=) rs538879121 0.00002
NM_002734.5(PRKAR1A):c.-6-7C>T rs373646911 0.00002
NM_001104631.2(PDE4D):c.*131T>C rs953481477 0.00001
NM_001104631.2(PDE4D):c.*1379A>G rs886060708 0.00001
NM_001104631.2(PDE4D):c.*4981C>G rs1024653706 0.00001
NM_001104631.2(PDE4D):c.*780G>C rs886060712 0.00001
NM_001104631.2(PDE4D):c.1053G>A (p.Gln351=) rs370618257 0.00001
NM_001104631.2(PDE4D):c.1188+15A>G rs1747991195 0.00001
NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=) rs371404288 0.00001
NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe) rs761294824 0.00001
NM_001104631.2(PDE4D):c.225G>A (p.Pro75=) rs957259316 0.00001
NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly) rs1290453118 0.00001
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr) rs780848487 0.00001
NM_001104631.2(PDE4D):c.993G>A (p.Glu331=) rs768712121 0.00001
NM_002734.5(PRKAR1A):c.*526G>A rs886053308 0.00001
NM_002734.5(PRKAR1A):c.*535T>G rs1329748321 0.00001
NM_002734.5(PRKAR1A):c.-11C>T rs1021510770 0.00001
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) rs1467886544 0.00001
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) rs746113372 0.00001
NM_001104631.2(PDE4D):c.*1251A>G rs17719258
NM_001104631.2(PDE4D):c.*1446T>C rs886060707
NM_001104631.2(PDE4D):c.*1729G>C rs751797196
NM_001104631.2(PDE4D):c.*1778T>C rs1580002684
NM_001104631.2(PDE4D):c.*2185T>G rs1742786887
NM_001104631.2(PDE4D):c.*2198C>T rs1742783371
NM_001104631.2(PDE4D):c.*2225C>T rs1742779838
NM_001104631.2(PDE4D):c.*2768T>G rs702531
NM_001104631.2(PDE4D):c.*2841A>C rs1038876803
NM_001104631.2(PDE4D):c.*3028A>G rs1742609985
NM_001104631.2(PDE4D):c.*3210A>G rs1742583103
NM_001104631.2(PDE4D):c.*3325T>C rs1742565588
NM_001104631.2(PDE4D):c.*3562T>C rs886060706
NM_001104631.2(PDE4D):c.*3844G>A rs886060705
NM_001104631.2(PDE4D):c.*4524C>T rs1742364726
NM_001104631.2(PDE4D):c.*4529C>T rs1742363826
NM_001104631.2(PDE4D):c.*466G>T rs140371223
NM_001104631.2(PDE4D):c.*4727C>G rs1742320588
NM_001104631.2(PDE4D):c.*5201G>A rs1742226834
NM_001104631.2(PDE4D):c.*5413G>C rs538935097
NM_001104631.2(PDE4D):c.*5545C>A rs886060700
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro) rs1747740719
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val) rs1747451452
NM_001104631.2(PDE4D):c.1552+7A>G rs768894375
NM_001104631.2(PDE4D):c.1707+12A>C rs1744027001
NM_001104631.2(PDE4D):c.1774A>C (p.Lys592Gln) rs1743815247
NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly) rs1743358464
NM_001104631.2(PDE4D):c.2355A>C (p.Glu785Asp) rs1743287865
NM_001104631.2(PDE4D):c.2366T>A (p.Val789Glu) rs1186516969
NM_001104631.2(PDE4D):c.758+11C>A rs202215336
NM_001276290.1(PRKAR1A):c.973+3439G>T rs2086031493
NM_002734.5(PRKAR1A):c.*1003C>T rs2085973222
NM_002734.5(PRKAR1A):c.*1111C>G rs2085976100
NM_002734.5(PRKAR1A):c.*1168A>T rs886053313
NM_002734.5(PRKAR1A):c.*1640C>T rs2085991084
NM_002734.5(PRKAR1A):c.*1838A>T rs2085997664
NM_002734.5(PRKAR1A):c.*1839G>A rs886053316
NM_002734.5(PRKAR1A):c.*1842A>T rs886053317
NM_002734.5(PRKAR1A):c.*1949G>T rs1600501089
NM_002734.5(PRKAR1A):c.*2018C>T rs540185706
NM_002734.5(PRKAR1A):c.*2067T>C rs886053318
NM_002734.5(PRKAR1A):c.*2072G>A rs886053319
NM_002734.5(PRKAR1A):c.*2089A>G rs577964161
NM_002734.5(PRKAR1A):c.*2114G>A rs573817614
NM_002734.5(PRKAR1A):c.*2152T>C rs2086006345
NM_002734.5(PRKAR1A):c.*2212C>T rs545517617
NM_002734.5(PRKAR1A):c.*389T>G rs886053307
NM_002734.5(PRKAR1A):c.*560G>A rs1029548849
NM_002734.5(PRKAR1A):c.*609C>G rs1307801222
NM_002734.5(PRKAR1A):c.*672T>C rs546125048
NM_002734.5(PRKAR1A):c.*704T>G rs886053310
NM_002734.5(PRKAR1A):c.*812A>C rs116996069
NM_002734.5(PRKAR1A):c.*812A>G rs116996069
NM_002734.5(PRKAR1A):c.-75G>T rs559757120
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.5(PRKAR1A):c.440+15T>C rs78183210
NM_002734.5(PRKAR1A):c.770-8T>G rs182841147
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_212472.2(PRKAR1A):c.-200T>A rs534001445

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