ClinVar Miner

List of variants studied for acrodysostosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 302
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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.*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_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
NM_002734.5(PRKAR1A):c.*1837G>T rs201999343 0.01775
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_002734.5(PRKAR1A):c.*138C>A rs28730842 0.00772
NM_002734.5(PRKAR1A):c.*759C>T rs62087489 0.00683
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_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) rs146689929 0.00538
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_002734.5(PRKAR1A):c.*151A>G rs11540571 0.00340
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.*847A>G rs144299673 0.00091
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_002734.5(PRKAR1A):c.-53C>T rs886053304 0.00044
NM_001104631.2(PDE4D):c.*403G>A rs752738157 0.00041
NM_001104631.1(PDE4D):c.-126A>G rs543720951 0.00036
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_001104631.2(PDE4D):c.*5190A>G rs886060701 0.00025
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_002734.5(PRKAR1A):c.381T>C (p.Ala127=) rs372669687 0.00011
NM_001104631.2(PDE4D):c.*1295G>A rs556877242 0.00010
NM_001104631.2(PDE4D):c.*2166del rs747331829 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_002734.5(PRKAR1A):c.502+12_502+13del rs764075585 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_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819 0.00006
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109 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_002734.5(PRKAR1A):c.549+20A>G rs981055703 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_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 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_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.1025G>A (p.Arg342His) rs760033566 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_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys) rs1177674637 0.00001
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372 0.00001
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434 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.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.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.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.758+11C>A rs202215336
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.997A>G (p.Ile333Val)
NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)
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.*1118dup rs886053312
NM_002734.5(PRKAR1A):c.*1168A>T rs886053313
NM_002734.5(PRKAR1A):c.*1640C>T rs2085991084
NM_002734.5(PRKAR1A):c.*172_*175del rs201146882
NM_002734.5(PRKAR1A):c.*1835del rs138320066
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.*2188C>G rs6958
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.*587del rs398041821
NM_002734.5(PRKAR1A):c.*587dup rs398041821
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.1003C>T (p.Arg335Cys) rs1555815121
NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro) rs387906694
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.1117T>C (p.Tyr373His) rs387906693
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln) rs746486900
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.5(PRKAR1A):c.349-5dup rs3841514
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr) rs1253034687
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu)
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) rs1308936763
NM_002734.5(PRKAR1A):c.440+15T>C rs78183210
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.5(PRKAR1A):c.503-13dup rs138285568
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) rs773162575
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_002734.5(PRKAR1A):c.620A>G (p.Tyr207Cys) rs1600486197
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp) rs2085773408
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) rs2143324114
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.5(PRKAR1A):c.770-8T>G rs182841147
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) rs1329426125
NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr) rs387906695
NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His) rs2143389718
NM_212472.2(PRKAR1A):c.-200T>A rs534001445
Single allele

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