ClinVar Miner

List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 8

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe) rs149710600 0.00027
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val) rs56082459 0.00012
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met) rs376134488 0.00011
NM_006258.4(PRKG1):c.1173+3A>G rs1405143204 0.00009
NM_006258.4(PRKG1):c.980C>A (p.Thr327Asn) rs138485549 0.00007
NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys) rs770812712 0.00006
NM_006258.4(PRKG1):c.1867A>T (p.Asn623Tyr) rs201720423 0.00005
NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys) rs377519440 0.00004
NM_006258.4(PRKG1):c.1264C>T (p.Arg422Cys) rs147351459 0.00004
NM_006258.4(PRKG1):c.1423A>G (p.Thr475Ala) rs140630065 0.00004
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser) rs766915028 0.00004
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln) rs761759814 0.00004
NM_006258.4(PRKG1):c.1102G>A (p.Ala368Thr) rs755634503 0.00003
NM_006258.4(PRKG1):c.1229G>A (p.Arg410His) rs201147665 0.00003
NM_006258.4(PRKG1):c.1832+5G>A rs752357283 0.00003
NM_006258.4(PRKG1):c.1962T>C (p.Ser654=) rs767330363 0.00002
NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala) rs750949508 0.00002
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg) rs763629518 0.00002
NM_006258.4(PRKG1):c.470T>C (p.Val157Ala) rs774143507 0.00002
NM_006258.4(PRKG1):c.478+4C>T rs753168304 0.00002
NM_006258.4(PRKG1):c.478+5G>A rs763059343 0.00002
NM_006258.4(PRKG1):c.586G>A (p.Val196Ile) rs777385159 0.00002
NM_006258.4(PRKG1):c.622G>A (p.Asp208Asn) rs760798881 0.00002
NM_006258.4(PRKG1):c.869G>C (p.Ser290Thr) rs756427024 0.00002
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) rs775720873 0.00001
NM_006258.4(PRKG1):c.1031A>G (p.Asp344Gly) rs902336329 0.00001
NM_006258.4(PRKG1):c.1073C>G (p.Ala358Gly) rs754567668 0.00001
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser) rs775372704 0.00001
NM_006258.4(PRKG1):c.1173+4G>A rs886039153 0.00001
NM_006258.4(PRKG1):c.1189G>A (p.Glu397Lys) rs773557548 0.00001
NM_006258.4(PRKG1):c.1202C>T (p.Thr401Met) rs1841726796 0.00001
NM_006258.4(PRKG1):c.1300G>A (p.Asp434Asn) rs371044753 0.00001
NM_006258.4(PRKG1):c.1338C>A (p.Ser446Arg) rs1368429980 0.00001
NM_006258.4(PRKG1):c.1391T>C (p.Ile464Thr) rs1008442154 0.00001
NM_006258.4(PRKG1):c.1576T>C (p.Phe526Leu) rs74905373 0.00001
NM_006258.4(PRKG1):c.1663G>A (p.Asp555Asn) rs773713867 0.00001
NM_006258.4(PRKG1):c.170C>T (p.Thr57Ile) rs758888287 0.00001
NM_006258.4(PRKG1):c.1811A>C (p.Asn604Thr) rs886039042 0.00001
NM_006258.4(PRKG1):c.1879G>T (p.Asp627Tyr) rs1428272946 0.00001
NM_006258.4(PRKG1):c.2052A>G (p.Ile684Met) rs374752370 0.00001
NM_006258.4(PRKG1):c.2053G>C (p.Asp685His) rs1398800687 0.00001
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe) rs1368918637 0.00001
NM_006258.4(PRKG1):c.378G>C (p.Gln126His) rs749508576 0.00001
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly) rs140871298 0.00001
NM_006258.4(PRKG1):c.449A>C (p.Asp150Ala) rs775427696 0.00001
NM_006258.4(PRKG1):c.619A>G (p.Ile207Val) rs1235083176 0.00001
NM_006258.4(PRKG1):c.630A>G (p.Gln210=) rs1345898109 0.00001
NM_006258.4(PRKG1):c.75C>A (p.Ile25=) rs776048746 0.00001
NM_006258.4(PRKG1):c.799G>A (p.Gly267Ser) rs747670757 0.00001
NM_006258.4(PRKG1):c.935+5G>A rs80293383 0.00001
NC_000010.10:g.(?_52834351)_(53227616_?)dup
NC_000010.10:g.(?_53227463)_(53769653_?)dup
NC_000010.10:g.(?_53564335)_(53564460_?)del
NC_000010.10:g.(?_53564335)_(53667340_?)del
NC_000010.10:g.(?_53667247)_(53769653_?)del
NC_000010.10:g.(?_53814224)_(54053660_?)del
NC_000010.10:g.(?_53893580)_(53921743_?)dup
NC_000010.10:g.(?_53893590)_(53921733_?)dup
NC_000010.10:g.(?_54011320)_(54530789_?)dup
NC_000010.10:g.(?_54049964)_(54053660_?)del
NC_000010.10:g.(?_54053542)_(54053660_?)dup
NC_000010.11:g.(?_51074581)_(51074911_?)dup
NC_000010.11:g.(?_51907497)_(51907580_?)del
NC_000010.11:g.(?_52054474)_(52054571_?)del
NC_000010.11:g.(?_52161869)_(52161983_?)del
NM_006258.4(PRKG1):c.1000G>A (p.Asp334Asn) rs2132635326
NM_006258.4(PRKG1):c.1001+3A>G rs1409492576
NM_006258.4(PRKG1):c.1034A>C (p.Asp345Ala)
NM_006258.4(PRKG1):c.1049C>G (p.Ala350Gly)
NM_006258.4(PRKG1):c.1065A>C (p.Glu355Asp) rs1564496116
NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val)
NM_006258.4(PRKG1):c.1089A>C (p.Glu363Asp)
NM_006258.4(PRKG1):c.1091C>T (p.Ala364Val)
NM_006258.4(PRKG1):c.1094C>A (p.Ala365Asp)
NM_006258.4(PRKG1):c.1099T>C (p.Phe367Leu)
NM_006258.4(PRKG1):c.1102G>C (p.Ala368Pro)
NM_006258.4(PRKG1):c.113T>A (p.Leu38Gln)
NM_006258.4(PRKG1):c.1141C>G (p.Leu381Val)
NM_006258.4(PRKG1):c.1159G>A (p.Gly387Arg)
NM_006258.4(PRKG1):c.1162C>T (p.Arg388Ter)
NM_006258.4(PRKG1):c.1163G>A (p.Arg388Gln)
NM_006258.4(PRKG1):c.1166T>C (p.Val389Ala) rs572399173
NM_006258.4(PRKG1):c.1174G>A (p.Val392Ile)
NM_006258.4(PRKG1):c.1187G>A (p.Ser396Asn)
NM_006258.4(PRKG1):c.1277A>G (p.Gln426Arg)
NM_006258.4(PRKG1):c.1314-8A>G rs2132434246
NM_006258.4(PRKG1):c.1318T>C (p.Tyr440His) rs1589750418
NM_006258.4(PRKG1):c.1409C>T (p.Ser470Leu) rs267602521
NM_006258.4(PRKG1):c.1466A>G (p.Tyr489Cys) rs149710600
NM_006258.4(PRKG1):c.1477A>G (p.Lys493Glu) rs2132447536
NM_006258.4(PRKG1):c.1528C>T (p.Arg510Ter) rs1564544146
NM_006258.4(PRKG1):c.1529G>A (p.Arg510Gln)
NM_006258.4(PRKG1):c.1588A>T (p.Thr530Ser)
NM_006258.4(PRKG1):c.1598T>C (p.Phe533Ser) rs1060501403
NM_006258.4(PRKG1):c.160C>G (p.Arg54Gly) rs1326285215
NM_006258.4(PRKG1):c.1613A>G (p.Glu538Gly) rs1842017438
NM_006258.4(PRKG1):c.1642A>C (p.Lys548Gln)
NM_006258.4(PRKG1):c.1696C>T (p.Leu566Phe)
NM_006258.4(PRKG1):c.1714C>A (p.Pro572Thr) rs1589761666
NM_006258.4(PRKG1):c.1738A>G (p.Lys580Glu)
NM_006258.4(PRKG1):c.1740A>C (p.Lys580Asn) rs775721644
NM_006258.4(PRKG1):c.1745A>G (p.Tyr582Cys) rs2132460049
NM_006258.4(PRKG1):c.1788G>T (p.Lys596Asn)
NM_006258.4(PRKG1):c.1801A>T (p.Asn601Tyr)
NM_006258.4(PRKG1):c.1824del (p.Lys608fs)
NM_006258.4(PRKG1):c.1832+3A>G rs780715198
NM_006258.4(PRKG1):c.1858A>T (p.Asn620Tyr) rs2132460377
NM_006258.4(PRKG1):c.1864A>C (p.Lys622Gln) rs1842179456
NM_006258.4(PRKG1):c.1896A>G (p.Lys632=)
NM_006258.4(PRKG1):c.189G>C (p.Gln63His)
NM_006258.4(PRKG1):c.191G>C (p.Ser64Thr) rs1843903927
NM_006258.4(PRKG1):c.1923C>T (p.Gly641=) rs749102311
NM_006258.4(PRKG1):c.1934G>T (p.Gly645Val) rs2132462447
NM_006258.4(PRKG1):c.1936A>T (p.Thr646Ser) rs1057524623
NM_006258.4(PRKG1):c.1937C>T (p.Thr646Ile) rs1554824353
NM_006258.4(PRKG1):c.194C>A (p.Ala65Glu)
NM_006258.4(PRKG1):c.1960A>C (p.Ser654Arg)
NM_006258.4(PRKG1):c.1997G>A (p.Ser666Asn)
NM_006258.4(PRKG1):c.2011_2013del (p.Asn671del) rs773730432
NM_006258.4(PRKG1):c.2026C>T (p.Pro676Ser)
NM_006258.4(PRKG1):c.202T>A (p.Leu68Met)
NM_006258.4(PRKG1):c.2037C>G (p.Asn679Lys)
NM_006258.4(PRKG1):c.2041G>A (p.Gly681Arg)
NM_006258.4(PRKG1):c.2048A>T (p.Asp683Val) rs1564549596
NM_006258.4(PRKG1):c.2051T>C (p.Ile684Thr)
NM_006258.4(PRKG1):c.2054_*2dup (p.Asp685_Ter687=) rs1842327431
NM_006258.4(PRKG1):c.206A>C (p.Gln69Pro)
NM_006258.4(PRKG1):c.206A>G (p.Gln69Arg)
NM_006258.4(PRKG1):c.214C>A (p.Pro72Thr)
NM_006258.4(PRKG1):c.214C>G (p.Pro72Ala)
NM_006258.4(PRKG1):c.227G>C (p.Arg76Pro)
NM_006258.4(PRKG1):c.230A>G (p.Gln77Arg) rs2132804699
NM_006258.4(PRKG1):c.232G>A (p.Ala78Thr) rs2132804704
NM_006258.4(PRKG1):c.254C>T (p.Ala85Val)
NM_006258.4(PRKG1):c.284C>T (p.Thr95Ile)
NM_006258.4(PRKG1):c.304A>G (p.Ser102Gly)
NM_006258.4(PRKG1):c.306C>G (p.Ser102Arg)
NM_006258.4(PRKG1):c.307C>T (p.Pro103Ser)
NM_006258.4(PRKG1):c.311+15C>G
NM_006258.4(PRKG1):c.319G>A (p.Asp107Asn) rs751916382
NM_006258.4(PRKG1):c.319G>C (p.Asp107His) rs751916382
NM_006258.4(PRKG1):c.31C>T (p.Leu11Phe)
NM_006258.4(PRKG1):c.406C>T (p.Pro136Ser)
NM_006258.4(PRKG1):c.407C>T (p.Pro136Leu) rs1157867791
NM_006258.4(PRKG1):c.410T>C (p.Val137Ala)
NM_006258.4(PRKG1):c.431G>A (p.Cys144Tyr) rs1474737976
NM_006258.4(PRKG1):c.431G>C (p.Cys144Ser)
NM_006258.4(PRKG1):c.444_449dup (p.Glu148_Gly149dup) rs1589198305
NM_006258.4(PRKG1):c.461T>C (p.Leu154Pro) rs1846124871
NM_006258.4(PRKG1):c.505G>A (p.Gly169Ser)
NM_006258.4(PRKG1):c.508G>A (p.Val170Met)
NM_006258.4(PRKG1):c.525G>A (p.Met175Ile)
NM_006258.4(PRKG1):c.526G>A (p.Gly176Ser)
NM_006258.4(PRKG1):c.539T>C (p.Val180Ala) rs1406292952
NM_006258.4(PRKG1):c.546G>T (p.Gly182=) rs73336216
NM_006258.4(PRKG1):c.58C>T (p.Gln20Ter)
NM_006258.4(PRKG1):c.593-2A>C
NM_006258.4(PRKG1):c.614G>C (p.Trp205Ser)
NM_006258.4(PRKG1):c.61C>G (p.Arg21Gly)
NM_006258.4(PRKG1):c.643A>G (p.Ile215Val)
NM_006258.4(PRKG1):c.648G>C (p.Met216Ile)
NM_006258.4(PRKG1):c.665T>A (p.Ile222Asn)
NM_006258.4(PRKG1):c.683T>C (p.Met228Thr) rs1468952215
NM_006258.4(PRKG1):c.698+3A>G
NM_006258.4(PRKG1):c.698+4G>A rs374166820
NM_006258.4(PRKG1):c.699-1G>A
NM_006258.4(PRKG1):c.700G>A (p.Val234Ile)
NM_006258.4(PRKG1):c.700G>T (p.Val234Phe)
NM_006258.4(PRKG1):c.711C>A (p.Phe237Leu) rs1029991615
NM_006258.4(PRKG1):c.712C>A (p.Gln238Lys) rs987666890
NM_006258.4(PRKG1):c.714G>T (p.Gln238His)
NM_006258.4(PRKG1):c.721C>T (p.Pro241Ser)
NM_006258.4(PRKG1):c.762+3A>C
NM_006258.4(PRKG1):c.782A>C (p.Glu261Ala) rs2133254613
NM_006258.4(PRKG1):c.784T>C (p.Tyr262His)
NM_006258.4(PRKG1):c.785A>T (p.Tyr262Phe) rs2133254634
NM_006258.4(PRKG1):c.791T>A (p.Ile264Asn) rs1846063656
NM_006258.4(PRKG1):c.795_796delinsAA (p.Gln266Lys) rs2133254668
NM_006258.4(PRKG1):c.79G>C (p.Glu27Gln) rs1843900542
NM_006258.4(PRKG1):c.805A>G (p.Arg269Gly) rs1846064148
NM_006258.4(PRKG1):c.815C>A (p.Thr272Asn) rs2133254714
NM_006258.4(PRKG1):c.820T>C (p.Phe274Leu) rs1554797637
NM_006258.4(PRKG1):c.840+3A>G
NM_006258.4(PRKG1):c.840+5G>T rs1064796485
NM_006258.4(PRKG1):c.840+6C>G rs2133254762
NM_006258.4(PRKG1):c.840G>A (p.Thr280=)
NM_006258.4(PRKG1):c.841-3C>A
NM_006258.4(PRKG1):c.85G>C (p.Glu29Gln)
NM_006258.4(PRKG1):c.881T>A (p.Val294Asp) rs757416473
NM_006258.4(PRKG1):c.881T>G (p.Val294Gly)
NM_006258.4(PRKG1):c.905G>A (p.Gly302Glu)
NM_006258.4(PRKG1):c.910T>A (p.Trp304Arg)
NM_006258.4(PRKG1):c.930G>T (p.Leu310Phe) rs1564452654
NM_006258.4(PRKG1):c.936-3T>C
NM_006258.4(PRKG1):c.958G>A (p.Val320Ile) rs768491086
NM_006258.4(PRKG1):c.982T>A (p.Cys328Ser)
NM_006258.4(PRKG1):c.994G>C (p.Asp332His) rs2132635323

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.