ClinVar Miner

List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 7

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 215
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HGVS dbSNP
NC_000003.11:g.(?_123401051)_(123401177_?)del
NM_053025.4(MYLK):c.1003A>G (p.Thr335Ala) rs757891156
NM_053025.4(MYLK):c.1009G>C (p.Val337Leu)
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile) rs961194527
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr)
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690
NM_053025.4(MYLK):c.1219G>A (p.Gly407Ser) rs199719143
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys) rs199719143
NM_053025.4(MYLK):c.1226G>A (p.Arg409Lys)
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg) rs377193216
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076
NM_053025.4(MYLK):c.1271A>T (p.Glu424Val) rs779309547
NM_053025.4(MYLK):c.1289C>G (p.Thr430Ser) rs1386279142
NM_053025.4(MYLK):c.1330G>A (p.Glu444Lys) rs766381045
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly) rs760407806
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) rs1064792964
NM_053025.4(MYLK):c.1396G>A (p.Asp466Asn) rs1060502529
NM_053025.4(MYLK):c.1400C>G (p.Ala467Gly) rs878855175
NM_053025.4(MYLK):c.1433G>A (p.Arg478Gln) rs775483725
NM_053025.4(MYLK):c.143C>G (p.Ala48Gly) rs1060502537
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.4(MYLK):c.1480G>C (p.Gly494Arg) rs1002989047
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala)
NM_053025.4(MYLK):c.1509A>G (p.Gln503=)
NM_053025.4(MYLK):c.1513G>A (p.Glu505Lys) rs780888701
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp) rs55672414
NM_053025.4(MYLK):c.1613G>A (p.Arg538Gln) rs368509953
NM_053025.4(MYLK):c.1651+1G>A rs1560135856
NM_053025.4(MYLK):c.1684G>A (p.Glu562Lys)
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser)
NM_053025.4(MYLK):c.1693G>A (p.Val565Met)
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) rs776636237
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) rs761639849
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) rs749069560
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) rs758715543
NM_053025.4(MYLK):c.179C>T (p.Pro60Leu) rs1060502532
NM_053025.4(MYLK):c.1802A>C (p.His601Pro) rs45477891
NM_053025.4(MYLK):c.1807A>G (p.Lys603Glu) rs751023438
NM_053025.4(MYLK):c.1865C>G (p.Ala622Gly)
NM_053025.4(MYLK):c.1957G>A (p.Glu653Lys) rs142765858
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.1990C>T (p.Gln664Ter) rs1553809100
NM_053025.4(MYLK):c.2009A>T (p.His670Leu) rs1057524740
NM_053025.4(MYLK):c.2060C>G (p.Pro687Arg)
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met) rs368417112
NM_053025.4(MYLK):c.2085C>G (p.Cys695Trp) rs780052122
NM_053025.4(MYLK):c.2085C>T (p.Cys695=)
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg)
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) rs757524646
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.4(MYLK):c.2165G>A (p.Trp722Ter)
NM_053025.4(MYLK):c.2183G>A (p.Arg728His) rs370154845
NM_053025.4(MYLK):c.2260T>C (p.Trp754Arg) rs774187263
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) rs368413008
NM_053025.4(MYLK):c.2305G>A (p.Glu769Lys)
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) rs758697820
NM_053025.4(MYLK):c.2403C>T (p.Gly801=)
NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys) rs1477764878
NM_053025.4(MYLK):c.2439C>G (p.Asn813Lys) rs1060502538
NM_053025.4(MYLK):c.243G>A (p.Leu81=)
NM_053025.4(MYLK):c.2458C>T (p.Pro820Ser) rs748575040
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422
NM_053025.4(MYLK):c.2462+5G>A rs374003770
NM_053025.4(MYLK):c.2463G>T (p.Arg821=) rs562829000
NM_053025.4(MYLK):c.2464G>A (p.Gly822Arg) rs776358725
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554
NM_053025.4(MYLK):c.2492T>G (p.Leu831Arg) rs1560097299
NM_053025.4(MYLK):c.2495G>A (p.Cys832Tyr) rs1553804523
NM_053025.4(MYLK):c.2509G>C (p.Gly837Arg) rs1401139381
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.4(MYLK):c.2571G>T (p.Gly857=)
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.4(MYLK):c.2599G>A (p.Glu867Lys)
NM_053025.4(MYLK):c.2605G>A (p.Val869Met) rs749162097
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser)
NM_053025.4(MYLK):c.2663G>A (p.Arg888His) rs528507616
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val) rs765778763
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) rs561148360
NM_053025.4(MYLK):c.2741A>G (p.Asp914Gly)
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys)
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) rs766824318
NM_053025.4(MYLK):c.2777G>A (p.Arg926His)
NM_053025.4(MYLK):c.2804C>T (p.Pro935Leu) rs1359230351
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) rs1200981327
NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys) rs749847711
NM_053025.4(MYLK):c.2885C>G (p.Thr962Ser)
NM_053025.4(MYLK):c.2911G>A (p.Val971Met)
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) rs756054110
NM_053025.4(MYLK):c.298G>A (p.Asp100Asn) rs1060502535
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg) rs1345796517
NM_053025.4(MYLK):c.3076G>A (p.Val1026Met) rs778578954
NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1]) rs758966808
NM_053025.4(MYLK):c.3096_3131dup (p.1032_1043AETLKPMGNAKP[3])
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val)
NM_053025.4(MYLK):c.3120_3155del (p.1032_1043AETLKPMGNAKP[1]) rs779483683
NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr) rs568590920
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala) rs777200220
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys)
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile) rs1060502533
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr)
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) rs11558550
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg) rs148033472
NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs) rs1553803235
NM_053025.4(MYLK):c.3350T>C (p.Leu1117Pro)
NM_053025.4(MYLK):c.3433A>G (p.Ile1145Val) rs1560092388
NM_053025.4(MYLK):c.344G>A (p.Arg115His) rs141131535
NM_053025.4(MYLK):c.3463G>A (p.Val1155Ile) rs201251944
NM_053025.4(MYLK):c.3545C>T (p.Ser1182Phe) rs372251565
NM_053025.4(MYLK):c.3565+3_3565+6del
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg)
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) rs142421063
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
NM_053025.4(MYLK):c.3652_3652+1del rs1553795301
NM_053025.4(MYLK):c.3659C>T (p.Ala1220Val) rs370872760
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050
NM_053025.4(MYLK):c.372A>C (p.Glu124Asp)
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477
NM_053025.4(MYLK):c.3784A>G (p.Thr1262Ala) rs1553788596
NM_053025.4(MYLK):c.3824G>A (p.Arg1275Gln) rs564792567
NM_053025.4(MYLK):c.3832-8G>C
NM_053025.4(MYLK):c.3836A>G (p.Gln1279Arg) rs956816227
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.4(MYLK):c.3856G>A (p.Val1286Met) rs766866941
NM_053025.4(MYLK):c.3863A>G (p.Asn1288Ser)
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.4(MYLK):c.3899C>T (p.Ala1300Val) rs201265306
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys) rs368321325
NM_053025.4(MYLK):c.3916G>A (p.Gly1306Ser) rs755117377
NM_053025.4(MYLK):c.4016G>T (p.Cys1339Phe) rs749921840
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp)
NM_053025.4(MYLK):c.4082G>A (p.Ser1361Asn) rs886039143
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) rs750002545
NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys) rs748559781
NM_053025.4(MYLK):c.4208G>A (p.Arg1403His)
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys)
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) rs751056847
NM_053025.4(MYLK):c.423-8C>G
NM_053025.4(MYLK):c.4246A>G (p.Ser1416Gly) rs758305428
NM_053025.4(MYLK):c.4289-10_4289-9dup rs41431347
NM_053025.4(MYLK):c.4289-3del rs41431347
NM_053025.4(MYLK):c.4289-6C>A rs200774169
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969
NM_053025.4(MYLK):c.4397T>C (p.Ile1466Thr) rs766722671
NM_053025.4(MYLK):c.4460G>A (p.Arg1487Gln)
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352
NM_053025.4(MYLK):c.4567C>A (p.Gln1523Lys)
NM_053025.4(MYLK):c.4603G>A (p.Val1535Ile)
NM_053025.4(MYLK):c.463A>C (p.Ile155Leu) rs368775754
NM_053025.4(MYLK):c.463A>G (p.Ile155Val) rs368775754
NM_053025.4(MYLK):c.4681G>C (p.Glu1561Gln) rs1114167363
NM_053025.4(MYLK):c.468G>A (p.Trp156Ter) rs1560156324
NM_053025.4(MYLK):c.4715G>A (p.Gly1572Glu) rs1060502534
NM_053025.4(MYLK):c.4731C>G (p.His1577Gln) rs1399378417
NM_053025.4(MYLK):c.4748A>G (p.His1583Arg) rs1553778145
NM_053025.4(MYLK):c.474G>T (p.Glu158Asp) rs370158852
NM_053025.4(MYLK):c.4813G>A (p.Asp1605Asn) rs1060502536
NM_053025.4(MYLK):c.4838-3C>T rs776825316
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg) rs143900788
NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala) rs752526557
NM_053025.4(MYLK):c.4992C>A (p.Asp1664Glu) rs1553774803
NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly)
NM_053025.4(MYLK):c.49C>T (p.Leu17Phe)
NM_053025.4(MYLK):c.5003_5017dup (p.Glu1668_Asn1672dup) rs1553774774
NM_053025.4(MYLK):c.5041G>T (p.Asp1681Tyr)
NM_053025.4(MYLK):c.506G>A (p.Arg169Gln)
NM_053025.4(MYLK):c.5119C>T (p.Arg1707Cys) rs1060502530
NM_053025.4(MYLK):c.5120G>A (p.Arg1707His) rs1328179065
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg) rs374662467
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467
NM_053025.4(MYLK):c.5214G>C (p.Lys1738Asn) rs761266023
NM_053025.4(MYLK):c.524G>T (p.Gly175Val) rs375456836
NM_053025.4(MYLK):c.5287A>G (p.Met1763Val) rs1337673131
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met) rs746213310
NM_053025.4(MYLK):c.5377T>G (p.Ser1793Ala) rs1553770582
NM_053025.4(MYLK):c.5382A>C (p.Gln1794His)
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys)
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_053025.4(MYLK):c.5489G>C (p.Cys1830Ser) rs1302244958
NM_053025.4(MYLK):c.554C>G (p.Thr185Ser) rs1057518439
NM_053025.4(MYLK):c.5587G>A (p.Gly1863Arg) rs1559957355
NM_053025.4(MYLK):c.560G>A (p.Arg187Gln) rs762477499
NM_053025.4(MYLK):c.568C>T (p.Pro190Ser) rs1560155884
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) rs794727880
NM_053025.4(MYLK):c.5727_5732GGAAGA[3] (p.Glu1913_Glu1914dup)
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018
NM_053025.4(MYLK):c.608C>A (p.Pro203Gln) rs772426809
NM_053025.4(MYLK):c.611G>A (p.Ser204Asn) rs878855176
NM_053025.4(MYLK):c.617G>T (p.Arg206Leu) rs367649461
NM_053025.4(MYLK):c.643A>G (p.Met215Val) rs754479443
NM_053025.4(MYLK):c.649G>T (p.Val217Phe) rs1553824777
NM_053025.4(MYLK):c.686G>A (p.Gly229Glu)
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) rs55935214
NM_053025.4(MYLK):c.710A>G (p.Asn237Ser)
NM_053025.4(MYLK):c.728C>G (p.Ser243Trp) rs202126043
NM_053025.4(MYLK):c.774-3C>T
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) rs755451013
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg)
NM_053025.4(MYLK):c.845A>G (p.Glu282Gly) rs1560148831
NM_053025.4(MYLK):c.848C>T (p.Ser283Leu)
NM_053025.4(MYLK):c.901C>A (p.Gln301Lys)
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) rs545515041

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