ClinVar Miner

List of variants in gene PDE4D studied for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP
NM_001104631.2(PDE4D):c.*1034C>T rs886060710
NM_001104631.2(PDE4D):c.*1251A>G rs17719258
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.*1323A>T rs149834563
NM_001104631.2(PDE4D):c.*1361C>T rs187518449
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.*1637C>T
NM_001104631.2(PDE4D):c.*1638G>A rs10075508
NM_001104631.2(PDE4D):c.*1649C>T rs530824932
NM_001104631.2(PDE4D):c.*1729G>C
NM_001104631.2(PDE4D):c.*1773A>G rs829260
NM_001104631.2(PDE4D):c.*1778T>C
NM_001104631.2(PDE4D):c.*1850T>C
NM_001104631.2(PDE4D):c.*1924T>C rs749539498
NM_001104631.2(PDE4D):c.*1938C>T rs10940636
NM_001104631.2(PDE4D):c.*2003T>C rs577458431
NM_001104631.2(PDE4D):c.*2004C>A rs760686759
NM_001104631.2(PDE4D):c.*2066T>C
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.*2279G>T rs12658211
NM_001104631.2(PDE4D):c.*2288A>G rs10036063
NM_001104631.2(PDE4D):c.*2329G>A rs74710642
NM_001104631.2(PDE4D):c.*2336T>G
NM_001104631.2(PDE4D):c.*2369G>A rs796829320
NM_001104631.2(PDE4D):c.*2383G>A rs185766952
NM_001104631.2(PDE4D):c.*2484T>C rs10035437
NM_001104631.2(PDE4D):c.*2510C>T
NM_001104631.2(PDE4D):c.*2515A>T rs829259
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.*2768T>G rs702531
NM_001104631.2(PDE4D):c.*2841A>C
NM_001104631.2(PDE4D):c.*2934G>A rs702530
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.*3214T>A rs188938118
NM_001104631.2(PDE4D):c.*3325T>C
NM_001104631.2(PDE4D):c.*3349T>A rs72764043
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.*3588A>C rs547764520
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.*4001C>G rs829258
NM_001104631.2(PDE4D):c.*4039G>T rs10071088
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.*4398T>G rs74874819
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.*4622G>T rs532407753
NM_001104631.2(PDE4D):c.*4659T>G rs75820400
NM_001104631.2(PDE4D):c.*4660C>T rs79996648
NM_001104631.2(PDE4D):c.*466G>T
NM_001104631.2(PDE4D):c.*4675G>A rs536451907
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.*4915C>T rs13160982
NM_001104631.2(PDE4D):c.*4965G>T rs11956001
NM_001104631.2(PDE4D):c.*4981C>G
NM_001104631.2(PDE4D):c.*5000A>G rs886060702
NM_001104631.2(PDE4D):c.*5118T>G rs11959349
NM_001104631.2(PDE4D):c.*5125C>T rs829257
NM_001104631.2(PDE4D):c.*5201G>A
NM_001104631.2(PDE4D):c.*5241T>C rs11950495
NM_001104631.2(PDE4D):c.*5260T>C rs11950492
NM_001104631.2(PDE4D):c.*5283A>G rs866638632
NM_001104631.2(PDE4D):c.*5295G>T rs143961299
NM_001104631.2(PDE4D):c.*5304C>T
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.*831A>C rs369129936
NM_001104631.2(PDE4D):c.-55C>T rs886060716
NM_001104631.2(PDE4D):c.-58G>T
NM_001104631.2(PDE4D):c.1041T>C (p.Pro347=)
NM_001104631.2(PDE4D):c.1053G>A (p.Gln351=) rs370618257
NM_001104631.2(PDE4D):c.1188+15A>G
NM_001104631.2(PDE4D):c.1189-4C>G
NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=) rs369906474
NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp)
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln) rs372946517
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro)
NM_001104631.2(PDE4D):c.1287+6G>A rs1553114
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val)
NM_001104631.2(PDE4D):c.1452+8T>C rs78773396
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=) rs375617990
NM_001104631.2(PDE4D):c.1552+7A>G rs768894375
NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser)
NM_001104631.2(PDE4D):c.1692A>G (p.Lys564=) rs115807337
NM_001104631.2(PDE4D):c.1707+12A>C
NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=) rs371404288
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.1804C>T (p.Leu602Phe)
NM_001104631.2(PDE4D):c.1831-7A>G rs766871489
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.2179C>T (p.Arg727Trp) rs759832724
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.2401G>A (p.Val801Ile)
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=) rs1345148257
NM_001104631.2(PDE4D):c.2427G>A (p.Thr809=) rs7736186
NM_001104631.2(PDE4D):c.339G>A (p.Glu113=) rs370095823
NM_001104631.2(PDE4D):c.456-12C>T rs114278541
NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala) rs397514466
NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr) rs397514464
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.705T>C (p.Thr235=) rs199590419
NM_001104631.2(PDE4D):c.758+11C>A
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr)
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr)
NM_001104631.2(PDE4D):c.891G>A (p.Arg297=) rs369034280
NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val) rs397515433
NM_001104631.2(PDE4D):c.993G>A (p.Glu331=)

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