ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as uncertain significance for Thoracic aortic aneurysm and aortic dissection

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Total variants: 95
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HGVS dbSNP
NM_001040113.1(MYH11):c.4376A>G (p.Lys1459Arg)
NM_001040113.1(MYH11):c.4424C>T (p.Ala1475Val) rs370240337
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.5014C>T (p.Arg1672Cys) rs768569707
NM_001040113.1(MYH11):c.5113G>A (p.Ala1705Thr) rs187172581
NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln) rs142546324
NM_001040113.1(MYH11):c.5357C>T (p.Thr1786Met) rs201960644
NM_001040113.1(MYH11):c.5807+11C>T rs374454501
NM_001040113.1(MYH11):c.5808-9C>T
NM_001040113.1(MYH11):c.5819dupC (p.Gln1941Thrfs) rs747392139
NM_001040113.2(MYH11):c.4138-6T>G
NM_001040113.2(MYH11):c.4144G>A (p.Asp1382Asn)
NM_001040113.2(MYH11):c.4927G>C (p.Ala1643Pro)
NM_001040113.2(MYH11):c.4974G>C (p.Gln1658His)
NM_001040113.2(MYH11):c.5141A>G (p.Asp1714Gly)
NM_001040113.2(MYH11):c.5269G>A (p.Gly1757Ser)
NM_001040113.2(MYH11):c.5320G>A (p.Glu1774Lys)
NM_001040113.2(MYH11):c.5374A>T (p.Ser1792Cys)
NM_001040113.2(MYH11):c.5474C>T (p.Ala1825Val)
NM_001040113.2(MYH11):c.5635G>A (p.Ala1879Thr)
NM_001040113.2(MYH11):c.5734C>T (p.Arg1912Trp)
NM_001040114.1(MYH11):c.3879+807A>G rs554671949
NM_001040114.1(MYH11):c.3880-156T>G rs565400287
NM_001040114.1(MYH11):c.3880-171dupT rs886051749
NM_001040114.1(MYH11):c.3880-173T>C rs886051751
NM_001040114.1(MYH11):c.4138-101C>A rs886051742
NM_001040114.1(MYH11):c.4138-80G>C rs7196012
NM_001143979.1(NDE1):c.*1155A>G rs886051752
NM_001143979.1(NDE1):c.*1571A>G rs564847648
NM_001143979.1(NDE1):c.*1663C>A rs886051754
NM_001143979.1(NDE1):c.*1808T>G rs147741620
NM_001143979.1(NDE1):c.*1981A>G rs886051756
NM_001143979.1(NDE1):c.*2030T>C rs886051757
NM_001143979.1(NDE1):c.*286G>A rs558625464
NM_001143979.1(NDE1):c.*290dupG rs886051743
NM_001143979.1(NDE1):c.*344C>T rs886051745
NM_001143979.1(NDE1):c.*367T>C rs138543179
NM_001143979.1(NDE1):c.*438G>A rs370519992
NM_001143979.1(NDE1):c.*481T>A rs886051746
NM_001143979.1(NDE1):c.*593A>G rs770305005
NM_001143979.1(NDE1):c.*897_*898insC rs1555553475
NM_001143979.1(NDE1):c.*911_*912dupCA rs34909724
NM_001143979.1(NDE1):c.*943C>T rs149894916
NM_001143979.1(NDE1):c.947+6327G>A rs886051727
NM_001143979.1(NDE1):c.947+6367C>T rs886051728
NM_001143979.1(NDE1):c.947+6469C>A rs573168314
NM_001143979.1(NDE1):c.947+6554T>C rs886051731
NM_001143979.1(NDE1):c.947+6612A>G rs886051732
NM_001143979.1(NDE1):c.947+6655_947+6656delGT rs768695681
NM_001143979.1(NDE1):c.947+6742G>C rs886051734
NM_001143979.1(NDE1):c.947+6903A>G rs558010405
NM_001143979.1(NDE1):c.948-10T>G rs775809843
NM_001143979.1(NDE1):c.948-2611C>T rs886051741
NM_001143979.1(NDE1):c.948-3135C>T rs759760029
NM_001143979.1(NDE1):c.948-3351T>C rs534983279
NM_001143979.1(NDE1):c.948-3908G>A rs749424185
NM_001143979.1(NDE1):c.948-4025C>T rs886051740
NM_001143979.1(NDE1):c.948-4894G>A rs771742318
NM_001143979.1(NDE1):c.948-5807C>G rs144421849
NM_001143979.1(NDE1):c.948-5828C>T rs757501817
NM_001143979.1(NDE1):c.948-5858G>A rs112564682
NM_001143979.1(NDE1):c.948-6953G>C rs746211825
NM_001143979.1(NDE1):c.948-6968G>A rs145857508
NM_001143979.1(NDE1):c.948-9257C>T rs886051737
NM_001143979.1(NDE1):c.948-9268G>C rs774511118
NM_001143979.1(NDE1):c.948-9270T>C rs886051736
NM_002474.2(MYH11):c.*641C>A rs886051730
NM_002474.2(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.2(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737
NM_002474.2(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.2(MYH11):c.4015C>A (p.Arg1339Ser) rs754951425
NM_002474.2(MYH11):c.4016G>A (p.Arg1339His) rs374271463
NM_002474.2(MYH11):c.4293C>T (p.Asp1431=) rs143588920
NM_002474.2(MYH11):c.4303G>A (p.Asp1435Asn) rs794728668
NM_002474.2(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648
NM_002474.2(MYH11):c.4663C>G (p.Leu1555Val) rs202231621
NM_002474.2(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.2(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362
NM_002474.2(MYH11):c.4756C>G (p.Gln1586Glu) rs794728680
NM_002474.2(MYH11):c.4791+13G>A rs374628714
NM_002474.2(MYH11):c.4808C>T (p.Thr1603Met) rs376105806
NM_002474.2(MYH11):c.4809G>A (p.Thr1603=) rs140577744
NM_002474.2(MYH11):c.5172-5C>T rs574893374
NM_002474.2(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.2(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374
NM_002474.2(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002474.2(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.2(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.2(MYH11):c.5596G>A (p.Glu1866Lys) rs148743922
NM_002474.2(MYH11):c.5666C>T (p.Ala1889Val) rs369950711
NM_002474.2(MYH11):c.5787-4707C>T rs111588143
NM_002474.2(MYH11):c.5787-4713C>A rs765030635
NM_002474.2(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.2(MYH11):c.5886C>T (p.Asp1962=) rs140789717

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