ClinVar Miner

List of variants reported as likely benign for Aortic aneurysm, familial thoracic 6

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Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_001613.4(ACTA2):c.455-18C>T rs139684702 0.00022
NM_001613.4(ACTA2):c.174C>T (p.Asp58=) rs150547139 0.00015
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764 0.00015
NM_001613.4(ACTA2):c.606C>T (p.Phe202=) rs143771352 0.00011
NM_001613.4(ACTA2):c.201G>C (p.Leu67=) rs199773697 0.00010
NM_001613.4(ACTA2):c.807C>T (p.Ile269=) rs112208466 0.00010
NM_001613.4(ACTA2):c.846C>T (p.Asn282=) rs375251378 0.00009
NM_001613.4(ACTA2):c.129+12T>C rs781402334 0.00007
NM_001613.4(ACTA2):c.1047C>T (p.Ala349=) rs111352790 0.00006
NM_001613.4(ACTA2):c.259-17del rs757055278 0.00006
NM_001613.4(ACTA2):c.63C>T (p.Ala21=) rs201193926 0.00006
NM_001613.4(ACTA2):c.903A>G (p.Leu301=) rs372824072 0.00006
NM_001613.4(ACTA2):c.216G>A (p.Pro72=) rs181255627 0.00004
NM_001613.4(ACTA2):c.324G>A (p.Thr108=) rs750005327 0.00004
NM_001613.4(ACTA2):c.420G>A (p.Ala140=) rs762567614 0.00004
NM_001613.4(ACTA2):c.60G>A (p.Lys20=) rs373232511 0.00004
NM_001613.4(ACTA2):c.1017C>T (p.Tyr339=) rs1418187980 0.00003
NM_001613.4(ACTA2):c.1092C>T (p.Tyr364=) rs754695149 0.00003
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=) rs747205071 0.00003
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
NM_001613.4(ACTA2):c.477T>C (p.Asp159=) rs761805696 0.00003
NM_001613.4(ACTA2):c.538C>T (p.Leu180=) rs375204799 0.00003
NM_001613.4(ACTA2):c.648G>A (p.Glu216=) rs775575485 0.00003
NM_001613.4(ACTA2):c.246C>T (p.Asp82=) rs1254836237 0.00002
NM_001613.4(ACTA2):c.357G>A (p.Glu119=) rs756754618 0.00002
NM_001613.4(ACTA2):c.369+7A>G rs760471677 0.00002
NM_001613.4(ACTA2):c.401T>C (p.Met134Thr) rs181698127 0.00002
NM_001613.4(ACTA2):c.591G>A (p.Glu197=) rs886038487 0.00002
NM_001613.4(ACTA2):c.729G>A (p.Glu243=) rs768077621 0.00002
NM_001613.4(ACTA2):c.72T>C (p.Ala24=) rs773996169 0.00002
NM_001613.4(ACTA2):c.960G>A (p.Thr320=) rs752425336 0.00002
NM_001613.4(ACTA2):c.222A>G (p.Glu74=) rs778261886 0.00001
NM_001613.4(ACTA2):c.234C>T (p.Ile78=) rs373518147 0.00001
NM_001613.4(ACTA2):c.259-15C>A rs1239079270 0.00001
NM_001613.4(ACTA2):c.259-8C>T rs771519428 0.00001
NM_001613.4(ACTA2):c.285G>A (p.Glu95=) rs748465638 0.00001
NM_001613.4(ACTA2):c.303A>G (p.Glu101=) rs757977826 0.00001
NM_001613.4(ACTA2):c.369+10C>A rs1057522148 0.00001
NM_001613.4(ACTA2):c.370-4G>C rs777243762 0.00001
NM_001613.4(ACTA2):c.411T>A (p.Ala137=) rs191977133 0.00001
NM_001613.4(ACTA2):c.455-11T>C rs765499730 0.00001
NM_001613.4(ACTA2):c.51G>C (p.Gly17=) rs1206769832 0.00001
NM_001613.4(ACTA2):c.579G>A (p.Lys193=) rs772458406 0.00001
NM_001613.4(ACTA2):c.617-14T>C rs776041033 0.00001
NM_001613.4(ACTA2):c.696C>T (p.Ala232=) rs749557185 0.00001
NM_001613.4(ACTA2):c.756C>T (p.Ile252=) rs982289637 0.00001
NM_001613.4(ACTA2):c.786C>G (p.Thr262=) rs1060503847 0.00001
NM_001613.4(ACTA2):c.808+14G>A rs774120023 0.00001
NM_001613.4(ACTA2):c.809-19G>A rs1364730695 0.00001
NM_001613.4(ACTA2):c.991-6T>C rs1057521471 0.00001
NM_001613.4(ACTA2):c.1023C>T (p.Val341=) rs139352781
NM_001613.4(ACTA2):c.1041C>T (p.Ile347=) rs1589388826
NM_001613.4(ACTA2):c.1044G>C (p.Leu348=)
NM_001613.4(ACTA2):c.108T>A (p.Ile36=)
NM_001613.4(ACTA2):c.129+12T>A
NM_001613.4(ACTA2):c.129+8A>C rs1845999194
NM_001613.4(ACTA2):c.130-12G>A
NM_001613.4(ACTA2):c.130-9C>A
NM_001613.4(ACTA2):c.132G>T (p.Gly44=)
NM_001613.4(ACTA2):c.156A>G (p.Lys52=)
NM_001613.4(ACTA2):c.162C>T (p.Ser54=)
NM_001613.4(ACTA2):c.198C>T (p.Ile66=) rs2133270008
NM_001613.4(ACTA2):c.204C>T (p.Thr68=) rs1350332195
NM_001613.4(ACTA2):c.259-11C>A
NM_001613.4(ACTA2):c.259-12C>A
NM_001613.4(ACTA2):c.259-12C>T rs1411318617
NM_001613.4(ACTA2):c.259-20T>C
NM_001613.4(ACTA2):c.259-20T>G
NM_001613.4(ACTA2):c.324G>T (p.Thr108=) rs750005327
NM_001613.4(ACTA2):c.339C>T (p.Asn113=)
NM_001613.4(ACTA2):c.342C>A (p.Pro114=)
NM_001613.4(ACTA2):c.348C>T (p.Ala116=) rs2133261262
NM_001613.4(ACTA2):c.369+11T>C
NM_001613.4(ACTA2):c.369+13C>A
NM_001613.4(ACTA2):c.369+19C>A
NM_001613.4(ACTA2):c.370-11T>C
NM_001613.4(ACTA2):c.370-4G>A
NM_001613.4(ACTA2):c.370-4G>T
NM_001613.4(ACTA2):c.399C>G (p.Ala133=) rs781132665
NM_001613.4(ACTA2):c.405T>C (p.Tyr135=)
NM_001613.4(ACTA2):c.408G>A (p.Val136=)
NM_001613.4(ACTA2):c.454+14C>A
NM_001613.4(ACTA2):c.454+14C>T
NM_001613.4(ACTA2):c.454+15G>A
NM_001613.4(ACTA2):c.454+17G>T
NM_001613.4(ACTA2):c.455-18C>G
NM_001613.4(ACTA2):c.455-3del rs1409629545
NM_001613.4(ACTA2):c.456C>T (p.Gly152=) rs1845848773
NM_001613.4(ACTA2):c.459C>T (p.Ile153=) rs1177449670
NM_001613.4(ACTA2):c.465G>A (p.Leu155=)
NM_001613.4(ACTA2):c.468C>T (p.Asp156=)
NM_001613.4(ACTA2):c.483C>T (p.Val161=)
NM_001613.4(ACTA2):c.492T>C (p.Asn164=) rs1468907232
NM_001613.4(ACTA2):c.495C>A (p.Val165=) rs1253704403
NM_001613.4(ACTA2):c.495C>T (p.Val165=) rs1253704403
NM_001613.4(ACTA2):c.510C>T (p.Gly170=)
NM_001613.4(ACTA2):c.51G>A (p.Gly17=)
NM_001613.4(ACTA2):c.522C>T (p.Pro174=)
NM_001613.4(ACTA2):c.583C>T (p.Leu195=)
NM_001613.4(ACTA2):c.588T>G (p.Thr196=)
NM_001613.4(ACTA2):c.616+10G>A
NM_001613.4(ACTA2):c.616+18T>C
NM_001613.4(ACTA2):c.617-12T>C
NM_001613.4(ACTA2):c.618T>C (p.Ala206=)
NM_001613.4(ACTA2):c.645G>A (p.Lys215=) rs1053760032
NM_001613.4(ACTA2):c.651A>G (p.Lys217=)
NM_001613.4(ACTA2):c.672C>T (p.Asp224=) rs745719583
NM_001613.4(ACTA2):c.747G>A (p.Val249=)
NM_001613.4(ACTA2):c.786C>T (p.Thr262=) rs1060503847
NM_001613.4(ACTA2):c.808+13C>T
NM_001613.4(ACTA2):c.808+9C>A
NM_001613.4(ACTA2):c.809-20G>A
NM_001613.4(ACTA2):c.809-4C>G
NM_001613.4(ACTA2):c.809-5T>C
NM_001613.4(ACTA2):c.809-9C>G
NM_001613.4(ACTA2):c.837C>A (p.Thr279=)
NM_001613.4(ACTA2):c.840C>A (p.Thr280=)
NM_001613.4(ACTA2):c.864T>C (p.Asp288=) rs2133246505
NM_001613.4(ACTA2):c.888T>C (p.Tyr296=)
NM_001613.4(ACTA2):c.88A>C (p.Arg30=) rs1564647905
NM_001613.4(ACTA2):c.897T>C (p.Asn299=)
NM_001613.4(ACTA2):c.900C>G (p.Val300=)
NM_001613.4(ACTA2):c.900C>T (p.Val300=) rs2133246362
NM_001613.4(ACTA2):c.927T>C (p.Pro309=)
NM_001613.4(ACTA2):c.933T>C (p.Ile311=) rs1845778698
NM_001613.4(ACTA2):c.951G>A (p.Lys317=)
NM_001613.4(ACTA2):c.957C>T (p.Ile319=)
NM_001613.4(ACTA2):c.96T>C (p.Val32=)
NM_001613.4(ACTA2):c.978C>T (p.Thr326=)
NM_001613.4(ACTA2):c.990+17del
NM_001613.4(ACTA2):c.991-11T>C
NM_001613.4(ACTA2):c.991-16T>C
NM_001613.4(ACTA2):c.991-17T>G
NM_001613.4(ACTA2):c.991-20T>A
NM_001613.4(ACTA2):c.991-4A>C rs761599964
NM_001613.4(ACTA2):c.991-8A>G rs1564641232

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