ClinVar Miner

List of variants reported as pathogenic for aortic aneurysm, familial thoracic 4 by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001040113.2(MYH11):c.644del (p.Ser215fs) rs1378450928 0.00001
NC_000016.10:g.(?_15395898)_(15884205_?)del
NC_000016.10:g.(?_15395898)_(15888585_?)del
NC_000016.10:g.(?_15586717)_(15838252_?)del
NC_000016.10:g.(?_15703971)_(15838272_?)del
NC_000016.10:g.(?_15703981)_(15838262_?)del
NC_000016.10:g.(?_15823235)_(15838272_?)del
NC_000016.9:g.(?_15802668)_(15932109_?)del
NC_000016.9:g.(?_15826401)_(15829455_?)del
NC_000016.9:g.(?_15832402)_(15850391_?)del
NC_000016.9:g.(?_15892497)_(15892564_?)del
NM_002474.3(MYH11):c.1024G>T (p.Glu342Ter)
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) rs1235801428
NM_002474.3(MYH11):c.1116del (p.Met372fs)
NM_002474.3(MYH11):c.1493_1494del (p.Glu498fs)
NM_002474.3(MYH11):c.1669C>T (p.Gln557Ter) rs1439991530
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.2311C>T (p.Arg771Ter) rs2151260076
NM_002474.3(MYH11):c.2334del (p.Glu779fs)
NM_002474.3(MYH11):c.2344C>T (p.Arg782Ter) rs777173010
NM_002474.3(MYH11):c.3277C>T (p.Gln1093Ter) rs2151244040
NM_002474.3(MYH11):c.3297del (p.Asp1100fs)
NM_002474.3(MYH11):c.3313C>T (p.Gln1105Ter)
NM_002474.3(MYH11):c.3376del (p.Asp1126fs) rs2041090817
NM_002474.3(MYH11):c.3603_3607dup (p.Gln1203fs) rs2041000390
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.3856_3858+1dup rs1013512621
NM_002474.3(MYH11):c.4116+1del rs2151219190
NM_002474.3(MYH11):c.4179dup (p.Lys1394fs)
NM_002474.3(MYH11):c.4315C>T (p.Gln1439Ter)
NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter) rs8046180
NM_002474.3(MYH11):c.4578+1G>A rs397514037
NM_002474.3(MYH11):c.4578+1G>C rs397514037
NM_002474.3(MYH11):c.4578+1G>T rs397514037
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) rs1567692384
NM_002474.3(MYH11):c.5101_5102del (p.Arg1701fs)
NM_002474.3(MYH11):c.5599C>T (p.Gln1867Ter) rs2151192622

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