ClinVar Miner

List of variants reported as benign for acrodysostosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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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_002734.5(PRKAR1A):c.770-24G>A rs2302230 0.73571
NM_002734.5(PRKAR1A):c.892-34G>T rs2302231 0.71288
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_002734.5(PRKAR1A):c.*1244T>C rs9925 0.22809
NM_002734.5(PRKAR1A):c.*1777C>T rs7977 0.22564
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_002734.5(PRKAR1A):c.*870G>A rs8082254 0.14031
NM_002734.5(PRKAR1A):c.*1212T>G rs8905 0.13021
NM_001104631.2(PDE4D):c.*5241T>C rs11950495 0.07267
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.*1323A>T rs149834563 0.00275
NM_001104631.2(PDE4D):c.*3214T>A rs188938118 0.00251
NM_001104631.2(PDE4D):c.-58G>T rs561124800 0.00188
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_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.891G>A (p.Arg297=) rs369034280 0.00053
NM_001104631.2(PDE4D):c.339G>A (p.Glu113=) rs370095823 0.00052
NM_001104631.2(PDE4D):c.*3588A>C rs547764520 0.00027
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=) rs200592054 0.00026
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln) rs372946517 0.00013
NM_002734.5(PRKAR1A):c.*1606A>G rs144632545 0.00013
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=) rs141432364 0.00012
NM_001104631.2(PDE4D):c.1041T>C (p.Pro347=) rs767986152 0.00010
NM_001104631.2(PDE4D):c.*1361C>T rs187518449 0.00005
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=) rs117639566 0.00004
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.1053G>A (p.Gln351=) rs370618257 0.00001
NM_001104631.2(PDE4D):c.993G>A (p.Glu331=) rs768712121 0.00001
NM_001104631.2(PDE4D):c.*1251A>G rs17719258
NM_001104631.2(PDE4D):c.*1459_*1463dup rs140905619
NM_001104631.2(PDE4D):c.*1774TATT[1] rs66487103
NM_001104631.2(PDE4D):c.*2768T>G rs702531
NM_001104631.2(PDE4D):c.*466G>T rs140371223
NM_001104631.2(PDE4D):c.*815_*817dup rs67531361
NM_001104631.2(PDE4D):c.*872_*875dup rs3839217
NM_001104631.2(PDE4D):c.1552+7A>G rs768894375
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
NM_002734.5(PRKAR1A):c.*2188C>G rs6958
NM_002734.5(PRKAR1A):c.*2212C>T rs545517617
NM_002734.5(PRKAR1A):c.*587dup rs398041821
NM_002734.5(PRKAR1A):c.*672T>C rs546125048
NM_002734.5(PRKAR1A):c.-75G>T rs559757120
NM_002734.5(PRKAR1A):c.349-5dup rs3841514
NM_002734.5(PRKAR1A):c.440+15T>C rs78183210
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His) rs2143389718

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