ClinVar Miner

List of variants in gene PDE4D studied for mandibulofacial dysostosis

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_001104631.2(PDE4D):c.648-22C>T rs27175 0.99711
NM_001104631.2(PDE4D):c.1552+37C>T rs3805556 0.85918
NM_001104631.2(PDE4D):c.922-42T>C rs7724713 0.81685
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.921+41T>C rs2279737 0.25119
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.*2653del rs138669344 0.15668
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_001104631.2(PDE4D):c.1692A>G (p.Lys564=) rs115807337 0.00540
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_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_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_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_001104631.2(PDE4D):c.*403G>A rs752738157 0.00041
NM_001104631.1(PDE4D):c.-126A>G rs543720951 0.00036
NM_001104631.2(PDE4D):c.*2003T>C rs577458431 0.00034
NM_001104631.2(PDE4D):c.*2004C>A rs760686759 0.00034
NM_001104631.2(PDE4D):c.*3588A>C rs547764520 0.00027
NM_001104631.2(PDE4D):c.*414T>C rs1030455444 0.00023
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_001104631.2(PDE4D):c.*58G>A rs963578789 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_001104631.2(PDE4D):c.*2604A>C rs542930751 0.00012
NM_001104631.2(PDE4D):c.*1034C>T rs886060710 0.00011
NM_001104631.2(PDE4D):c.*2166del rs747331829 0.00011
NM_001104631.2(PDE4D):c.*3492T>G rs949531257 0.00011
NM_001104631.2(PDE4D):c.*5190A>G rs886060701 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_001104631.2(PDE4D):c.*4703A>G rs186917544 0.00007
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.*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_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_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_001104631.2(PDE4D):c.235C>T (p.Pro79Ser) rs765507833 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.1476T>G (p.Ile492Met) rs1379060456 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.2179C>T (p.Arg727Trp) rs759832724 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.2399G>T (p.Cys800Phe) rs779815130 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_001104631.2(PDE4D):c.*1020_*1022dup rs886060711
NM_001104631.2(PDE4D):c.*1200T>A rs577495801
NM_001104631.2(PDE4D):c.*1201A>T rs559220819
NM_001104631.2(PDE4D):c.*1251A>G rs17719258
NM_001104631.2(PDE4D):c.*1446T>C rs886060707
NM_001104631.2(PDE4D):c.*1459_*1463dup rs140905619
NM_001104631.2(PDE4D):c.*1634_*1635dup rs138187044
NM_001104631.2(PDE4D):c.*1729G>C rs751797196
NM_001104631.2(PDE4D):c.*1774TATT[1] rs66487103
NM_001104631.2(PDE4D):c.*1778T>C rs1580002684
NM_001104631.2(PDE4D):c.*2028TAGA[3] rs780381459
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.*2242_*2243del rs148755437
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.*3165_*3166del rs760712576
NM_001104631.2(PDE4D):c.*3210A>G rs1742583103
NM_001104631.2(PDE4D):c.*3325T>C rs1742565588
NM_001104631.2(PDE4D):c.*33dup rs10718401
NM_001104631.2(PDE4D):c.*348_*351del rs35684984
NM_001104631.2(PDE4D):c.*3562T>C rs886060706
NM_001104631.2(PDE4D):c.*3754_*3755dup rs34128632
NM_001104631.2(PDE4D):c.*3844G>A rs886060705
NM_001104631.2(PDE4D):c.*4274ATTTT[4] rs766825126
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.*496_*500dup rs527630861
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.*582dup rs886060714
NM_001104631.2(PDE4D):c.*793GTTT[3] rs200995197
NM_001104631.2(PDE4D):c.*815_*817dup rs67531361
NM_001104631.2(PDE4D):c.*872_*875dup rs3839217
NM_001104631.2(PDE4D):c.1006A>G (p.Thr336Ala)
NM_001104631.2(PDE4D):c.1038T>G (p.Ile346Met)
NM_001104631.2(PDE4D):c.1189-9dup rs368587062
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro) rs1747740719
NM_001104631.2(PDE4D):c.1288-8dup rs143090133
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.1759A>C (p.Thr587Pro) rs397514467
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001104631.2(PDE4D):c.1774A>C (p.Lys592Gln) rs1743815247
NM_001104631.2(PDE4D):c.1828C>A (p.Gln610Lys)
NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala) rs387906744
NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp) rs397514469
NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr) rs587777188
NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly) rs1743358464
NM_001104631.2(PDE4D):c.2098A>G (p.Thr700Ala)
NM_001104631.2(PDE4D):c.2243C>T (p.Thr748Met)
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.430C>T (p.Pro144Ser)
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala) rs397514466
NM_001104631.2(PDE4D):c.569C>T (p.Ser190Phe) rs1751144333
NM_001104631.2(PDE4D):c.665T>C (p.Ile222Thr)
NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr) rs397514464
NM_001104631.2(PDE4D):c.674C>T (p.Pro225Leu)
NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser) rs397514465
NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys) rs397514465
NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu) rs397514468
NM_001104631.2(PDE4D):c.758+11C>A rs202215336
NM_001104631.2(PDE4D):c.863T>C (p.Leu288Pro)
NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val) rs397515433
NM_001104631.2(PDE4D):c.946C>T (p.Leu316Phe) rs2153344901
NM_001104631.2(PDE4D):c.959C>G (p.Ser320Cys)
NM_001104631.2(PDE4D):c.983A>C (p.Gln328Pro)
NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)
NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)
NM_001165899.2(PDE4D):c.91C>G (p.Arg31Gly) rs1266456259

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