ClinVar Miner

List of variants reported as likely benign for aortic aneurysm, familial thoracic 8 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 236
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006258.4(PRKG1):c.893C>T (p.Thr298Ile) rs140716870 0.00022
NM_006258.4(PRKG1):c.810G>C (p.Gly270=) rs151055252 0.00016
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=) rs374202731 0.00011
NM_006258.4(PRKG1):c.2043A>T (p.Gly681=) rs146785168 0.00011
NM_006258.4(PRKG1):c.15G>T (p.Arg5=) rs148780812 0.00010
NM_006258.4(PRKG1):c.1174-9T>G rs372515971 0.00008
NM_006258.4(PRKG1):c.1710-4G>A rs374445349 0.00008
NM_006258.4(PRKG1):c.1092G>A (p.Ala364=) rs373675576 0.00007
NM_006258.4(PRKG1):c.63G>A (p.Arg21=) rs143805509 0.00007
NM_006258.4(PRKG1):c.2014G>A (p.Asp672Asn) rs142375882 0.00006
NM_006258.4(PRKG1):c.30G>A (p.Ala10=) rs768867882 0.00006
NM_006258.4(PRKG1):c.375G>A (p.Ser125=) rs111805858 0.00006
NM_006258.4(PRKG1):c.1635C>T (p.Ile545=) rs562736939 0.00005
NM_006258.4(PRKG1):c.1173+8A>G rs202058118 0.00004
NM_006258.4(PRKG1):c.123G>A (p.Lys41=) rs146681875 0.00004
NM_006258.4(PRKG1):c.132C>T (p.Asn44=) rs139227021 0.00004
NM_006258.4(PRKG1):c.1519C>T (p.Leu507=) rs1050128985 0.00004
NM_006258.4(PRKG1):c.1611A>C (p.Pro537=) rs370755321 0.00004
NM_006258.4(PRKG1):c.1709+17G>A rs757059653 0.00004
NM_006258.4(PRKG1):c.1710-20C>T rs370461631 0.00004
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=) rs771700923 0.00004
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln) rs761759814 0.00004
NM_006258.4(PRKG1):c.570T>C (p.Cys190=) rs1277664864 0.00004
NM_006258.4(PRKG1):c.867G>A (p.Pro289=) rs150189667 0.00004
NM_006258.4(PRKG1):c.165A>T (p.Pro55=) rs761986596 0.00003
NM_006258.4(PRKG1):c.1845A>G (p.Ser615=) rs1177160264 0.00003
NM_006258.4(PRKG1):c.936-20T>C rs745724933 0.00003
NM_006258.4(PRKG1):c.951A>T (p.Thr317=) rs770604607 0.00003
NM_006258.4(PRKG1):c.1001+9A>G rs766890451 0.00002
NM_006258.4(PRKG1):c.1002-7C>G rs774905663 0.00002
NM_006258.4(PRKG1):c.1101C>T (p.Phe367=) rs752325371 0.00002
NM_006258.4(PRKG1):c.1315C>T (p.Leu439=) rs142314590 0.00002
NM_006258.4(PRKG1):c.1710-19G>A rs770131726 0.00002
NM_006258.4(PRKG1):c.1749C>T (p.Asn583=) rs765040798 0.00002
NM_006258.4(PRKG1):c.2013C>T (p.Asn671=) rs373962932 0.00002
NM_006258.4(PRKG1):c.237C>T (p.Ile79=) rs773472519 0.00002
NM_006258.4(PRKG1):c.311+15C>T rs764861976 0.00002
NM_006258.4(PRKG1):c.582G>A (p.Ala194=) rs370511935 0.00002
NM_006258.4(PRKG1):c.735C>G (p.Leu245=) rs761346689 0.00002
NM_006258.4(PRKG1):c.841-9T>C rs553608826 0.00002
NM_006258.4(PRKG1):c.939A>G (p.Glu313=) rs201105457 0.00002
NM_006258.4(PRKG1):c.1041T>C (p.Ser347=) rs540410515 0.00001
NM_006258.4(PRKG1):c.1077-12C>A rs558904618 0.00001
NM_006258.4(PRKG1):c.1114C>T (p.Leu372=) rs1286827784 0.00001
NM_006258.4(PRKG1):c.1143T>A (p.Leu381=) rs753459032 0.00001
NM_006258.4(PRKG1):c.1173+9T>C rs772605128 0.00001
NM_006258.4(PRKG1):c.1233C>T (p.His411=) rs760609014 0.00001
NM_006258.4(PRKG1):c.1317G>A (p.Leu439=) rs757592722 0.00001
NM_006258.4(PRKG1):c.1377A>G (p.Gly459=) rs1468973561 0.00001
NM_006258.4(PRKG1):c.1428C>T (p.Thr476=) rs374020671 0.00001
NM_006258.4(PRKG1):c.1536T>C (p.Tyr512=) rs149159224 0.00001
NM_006258.4(PRKG1):c.1546-7T>C rs1436490223 0.00001
NM_006258.4(PRKG1):c.156G>A (p.Val52=) rs755664654 0.00001
NM_006258.4(PRKG1):c.1617T>C (p.Tyr539=) rs1408876994 0.00001
NM_006258.4(PRKG1):c.1710C>T (p.Ser570=) rs200610874 0.00001
NM_006258.4(PRKG1):c.195G>A (p.Ala65=) rs1316840663 0.00001
NM_006258.4(PRKG1):c.1963-15G>A rs760233372 0.00001
NM_006258.4(PRKG1):c.1963-9T>G rs1842324375 0.00001
NM_006258.4(PRKG1):c.2016T>C (p.Asp672=) rs781473103 0.00001
NM_006258.4(PRKG1):c.243C>G (p.Ala81=) rs767315618 0.00001
NM_006258.4(PRKG1):c.27C>T (p.Tyr9=) rs777472224 0.00001
NM_006258.4(PRKG1):c.36G>A (p.Gln12=) rs1360836398 0.00001
NM_006258.4(PRKG1):c.450C>T (p.Asp150=) rs368286950 0.00001
NM_006258.4(PRKG1):c.471C>G (p.Val157=) rs760020835 0.00001
NM_006258.4(PRKG1):c.478+10G>T rs763995628 0.00001
NM_006258.4(PRKG1):c.479-8C>T rs749159461 0.00001
NM_006258.4(PRKG1):c.486G>A (p.Lys162=) rs773961955 0.00001
NM_006258.4(PRKG1):c.585C>T (p.Thr195=) rs139104275 0.00001
NM_006258.4(PRKG1):c.699-7T>C rs374748494 0.00001
NM_006258.4(PRKG1):c.75C>A (p.Ile25=) rs776048746 0.00001
NM_006258.4(PRKG1):c.763-8C>T rs777859336 0.00001
NM_006258.4(PRKG1):c.841-17A>G rs921467851 0.00001
NM_006258.4(PRKG1):c.861C>T (p.Asp287=) rs905594055 0.00001
NM_006258.4(PRKG1):c.945G>A (p.Val315=) rs1299274042 0.00001
NM_006258.4(PRKG1):c.94T>C (p.Leu32=) rs777040411 0.00001
NM_006258.4(PRKG1):c.957C>T (p.Asn319=) rs949262667 0.00001
NM_006258.4(PRKG1):c.1001+7A>G rs1364077283
NM_006258.4(PRKG1):c.1002-20del
NM_006258.4(PRKG1):c.1023A>G (p.Gly341=) rs2132688551
NM_006258.4(PRKG1):c.1050A>T (p.Ala350=)
NM_006258.4(PRKG1):c.1056A>G (p.Glu352=) rs1554811684
NM_006258.4(PRKG1):c.1076+14_1076+15del
NM_006258.4(PRKG1):c.1076+15T>C
NM_006258.4(PRKG1):c.1076+17_1076+18insGTTGGCC
NM_006258.4(PRKG1):c.1076+9C>A
NM_006258.4(PRKG1):c.1077-17dup
NM_006258.4(PRKG1):c.1077-20T>C rs2132400566
NM_006258.4(PRKG1):c.111A>G (p.Glu37=)
NM_006258.4(PRKG1):c.1122T>C (p.Asp374=)
NM_006258.4(PRKG1):c.1128C>T (p.Asn376=) rs2132400725
NM_006258.4(PRKG1):c.114G>C (p.Leu38=) rs913151254
NM_006258.4(PRKG1):c.1152A>G (p.Gly384=)
NM_006258.4(PRKG1):c.1161A>G (p.Gly387=)
NM_006258.4(PRKG1):c.1161A>T (p.Gly387=) rs2132400779
NM_006258.4(PRKG1):c.1173+10T>C rs780532362
NM_006258.4(PRKG1):c.1173+12T>C
NM_006258.4(PRKG1):c.1173+14C>T
NM_006258.4(PRKG1):c.1174-15C>T rs41280442
NM_006258.4(PRKG1):c.1174-16TC[2]
NM_006258.4(PRKG1):c.1174-7_1174-4del rs762325343
NM_006258.4(PRKG1):c.1188T>C (p.Ser396=) rs2132432689
NM_006258.4(PRKG1):c.1218T>C (p.Ile406=) rs1211976786
NM_006258.4(PRKG1):c.1236T>C (p.Ile412=)
NM_006258.4(PRKG1):c.1299C>A (p.Ser433=)
NM_006258.4(PRKG1):c.129G>A (p.Gln43=)
NM_006258.4(PRKG1):c.1313+7G>T rs1841729174
NM_006258.4(PRKG1):c.1314-9A>G rs1589750414
NM_006258.4(PRKG1):c.1332G>A (p.Lys444=) rs2132434278
NM_006258.4(PRKG1):c.135G>A (p.Glu45=)
NM_006258.4(PRKG1):c.13C>A (p.Arg5=) rs752092723
NM_006258.4(PRKG1):c.1403+9T>C rs1841756154
NM_006258.4(PRKG1):c.1404-16C>A
NM_006258.4(PRKG1):c.1404-17C>A
NM_006258.4(PRKG1):c.1410G>A (p.Ser470=)
NM_006258.4(PRKG1):c.1419T>C (p.Asp473=) rs748812366
NM_006258.4(PRKG1):c.147C>T (p.Tyr49=) rs1843902455
NM_006258.4(PRKG1):c.1515C>T (p.Leu505=)
NM_006258.4(PRKG1):c.1518C>A (p.Ile506=) rs1462590792
NM_006258.4(PRKG1):c.1527C>T (p.His509=)
NM_006258.4(PRKG1):c.153G>C (p.Ser51=) rs1400601775
NM_006258.4(PRKG1):c.1545+17C>T
NM_006258.4(PRKG1):c.1545+20G>C
NM_006258.4(PRKG1):c.1546-11C>T
NM_006258.4(PRKG1):c.1546-15T>C
NM_006258.4(PRKG1):c.1546-7_1546-6del
NM_006258.4(PRKG1):c.1584G>A (p.Lys528=)
NM_006258.4(PRKG1):c.1599T>C (p.Phe533=)
NM_006258.4(PRKG1):c.1605G>A (p.Gly535=)
NM_006258.4(PRKG1):c.162A>G (p.Arg54=) rs2132804433
NM_006258.4(PRKG1):c.1644A>G (p.Lys548=) rs200771178
NM_006258.4(PRKG1):c.1659A>T (p.Ser553=)
NM_006258.4(PRKG1):c.165A>C (p.Pro55=) rs761986596
NM_006258.4(PRKG1):c.1674A>C (p.Ser558=) rs1564544689
NM_006258.4(PRKG1):c.168C>T (p.Ala56=)
NM_006258.4(PRKG1):c.1692T>C (p.Tyr564=) rs1192112763
NM_006258.4(PRKG1):c.1719C>T (p.Phe573=) rs1589761680
NM_006258.4(PRKG1):c.171C>G (p.Thr57=) rs1278568068
NM_006258.4(PRKG1):c.1725C>A (p.Gly575=) rs75921640
NM_006258.4(PRKG1):c.1758G>A (p.Leu586=)
NM_006258.4(PRKG1):c.1779A>G (p.Glu593=) rs1478526424
NM_006258.4(PRKG1):c.1791G>A (p.Lys597=)
NM_006258.4(PRKG1):c.180G>A (p.Ala60=) rs756866692
NM_006258.4(PRKG1):c.1824A>G (p.Lys608=) rs1842177057
NM_006258.4(PRKG1):c.1832+11C>T
NM_006258.4(PRKG1):c.1832+14C>G
NM_006258.4(PRKG1):c.1833-17C>A rs762828657
NM_006258.4(PRKG1):c.1869T>C (p.Asn623=)
NM_006258.4(PRKG1):c.1895+13T>C
NM_006258.4(PRKG1):c.1895+19G>A
NM_006258.4(PRKG1):c.1896-18C>T
NM_006258.4(PRKG1):c.1896-9del rs780535098
NM_006258.4(PRKG1):c.189G>A (p.Gln63=) rs2132804540
NM_006258.4(PRKG1):c.1929A>G (p.Arg643=) rs1211745155
NM_006258.4(PRKG1):c.1962+18C>G
NM_006258.4(PRKG1):c.1962+20T>A
NM_006258.4(PRKG1):c.1962+9A>T
NM_006258.4(PRKG1):c.1963-10T>C rs2132469658
NM_006258.4(PRKG1):c.1963-13C>G
NM_006258.4(PRKG1):c.1968A>G (p.Ala656=) rs564599393
NM_006258.4(PRKG1):c.197G>T (p.Ser66Ile) rs530013905
NM_006258.4(PRKG1):c.2004T>G (p.Pro668=)
NM_006258.4(PRKG1):c.2007G>A (p.Glu669=)
NM_006258.4(PRKG1):c.2037C>T (p.Asn679=) rs1322320716
NM_006258.4(PRKG1):c.213G>A (p.Glu71=)
NM_006258.4(PRKG1):c.216G>A (p.Pro72=) rs2132804663
NM_006258.4(PRKG1):c.226C>A (p.Arg76=) rs919667557
NM_006258.4(PRKG1):c.240C>A (p.Ser80=)
NM_006258.4(PRKG1):c.240C>T (p.Ser80=)
NM_006258.4(PRKG1):c.252C>T (p.Thr84=) rs1325628462
NM_006258.4(PRKG1):c.261C>T (p.Asp87=) rs760561584
NM_006258.4(PRKG1):c.30G>T (p.Ala10=)
NM_006258.4(PRKG1):c.312-13T>C
NM_006258.4(PRKG1):c.33C>T (p.Leu11=)
NM_006258.4(PRKG1):c.372G>A (p.Leu124=)
NM_006258.4(PRKG1):c.375G>T (p.Ser125=) rs111805858
NM_006258.4(PRKG1):c.39G>A (p.Glu13=) rs878854901
NM_006258.4(PRKG1):c.408G>T (p.Pro136=)
NM_006258.4(PRKG1):c.420C>G (p.Gly140=)
NM_006258.4(PRKG1):c.432C>T (p.Cys144=) rs2131975482
NM_006258.4(PRKG1):c.459A>G (p.Ser153=) rs2131975529
NM_006258.4(PRKG1):c.460C>T (p.Leu154=) rs1487309461
NM_006258.4(PRKG1):c.478+14C>A
NM_006258.4(PRKG1):c.478+19A>G
NM_006258.4(PRKG1):c.478+7T>C rs2131975566
NM_006258.4(PRKG1):c.479-12C>T
NM_006258.4(PRKG1):c.479-14C>T
NM_006258.4(PRKG1):c.51G>A (p.Glu17=) rs2132803988
NM_006258.4(PRKG1):c.52C>T (p.Leu18=) rs1459600632
NM_006258.4(PRKG1):c.564C>T (p.Tyr188=) rs765303337
NM_006258.4(PRKG1):c.573C>T (p.Thr191=)
NM_006258.4(PRKG1):c.592+12T>G
NM_006258.4(PRKG1):c.592+19T>A
NM_006258.4(PRKG1):c.592+19T>G
NM_006258.4(PRKG1):c.592+7C>A rs2132814984
NM_006258.4(PRKG1):c.593-17C>G
NM_006258.4(PRKG1):c.593-19C>T
NM_006258.4(PRKG1):c.593-8T>C
NM_006258.4(PRKG1):c.600A>C (p.Val200=) rs2132611180
NM_006258.4(PRKG1):c.600A>G (p.Val200=)
NM_006258.4(PRKG1):c.633T>C (p.Cys211=) rs2132611264
NM_006258.4(PRKG1):c.642A>C (p.Thr214=) rs370640208
NM_006258.4(PRKG1):c.642A>G (p.Thr214=) rs370640208
NM_006258.4(PRKG1):c.645A>T (p.Ile215=)
NM_006258.4(PRKG1):c.652A>C (p.Arg218=) rs2132611314
NM_006258.4(PRKG1):c.675C>G (p.Thr225=) rs142166726
NM_006258.4(PRKG1):c.698+13C>A
NM_006258.4(PRKG1):c.698+18C>T
NM_006258.4(PRKG1):c.699-17T>G
NM_006258.4(PRKG1):c.69T>G (p.Ala23=) rs1277215606
NM_006258.4(PRKG1):c.711C>T (p.Phe237=) rs1029991615
NM_006258.4(PRKG1):c.723T>C (p.Pro241=)
NM_006258.4(PRKG1):c.729G>A (p.Glu243=)
NM_006258.4(PRKG1):c.72C>G (p.Leu24=) rs1589133691
NM_006258.4(PRKG1):c.732C>T (p.Ile244=)
NM_006258.4(PRKG1):c.735C>T (p.Leu245=)
NM_006258.4(PRKG1):c.762+20G>A
NM_006258.4(PRKG1):c.762+8T>C rs1589410271
NM_006258.4(PRKG1):c.763-20T>G
NM_006258.4(PRKG1):c.763-5T>G
NM_006258.4(PRKG1):c.765C>G (p.Thr255=)
NM_006258.4(PRKG1):c.768C>T (p.His256=) rs2133254561
NM_006258.4(PRKG1):c.771T>C (p.Tyr257=) rs2133254575
NM_006258.4(PRKG1):c.789T>C (p.Ile263=) rs1242584792
NM_006258.4(PRKG1):c.810G>A (p.Gly270=) rs151055252
NM_006258.4(PRKG1):c.819C>T (p.Phe273=)
NM_006258.4(PRKG1):c.831C>T (p.Ser277=)
NM_006258.4(PRKG1):c.834A>G (p.Lys278=)
NM_006258.4(PRKG1):c.840+17C>T
NM_006258.4(PRKG1):c.841-20T>C
NM_006258.4(PRKG1):c.841-5T>G rs1254124867
NM_006258.4(PRKG1):c.846T>C (p.Asn282=)
NM_006258.4(PRKG1):c.900A>C (p.Gly300=)
NM_006258.4(PRKG1):c.924A>G (p.Lys308=)
NM_006258.4(PRKG1):c.933G>A (p.Gln311=)
NM_006258.4(PRKG1):c.935+7A>T
NM_006258.4(PRKG1):c.99T>C (p.Asp33=) rs1589133712

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.