ClinVar Miner

List of variants reported as likely benign for Aortic aneurysm, familial thoracic 8

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ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile) rs202017913 0.00060
NM_006258.4(PRKG1):c.1002-10C>T rs374171830 0.00031
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe) rs149710600 0.00027
NM_001098512.3(PRKG1):c.13G>C (p.Glu5Gln) rs200844105 0.00024
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.546G>A (p.Gly182=) rs73336216
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

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