ClinVar Miner

List of variants reported as likely benign for Aortic aneurysm, familial thoracic 4 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_002474.3(MYH11):c.633+1942T>C rs199755371 0.00065
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_017668.3(NDE1):c.948-40C>T rs142707175 0.00011
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_017668.3(NDE1):c.948-9102G>A rs376174444 0.00005
NM_002474.3(MYH11):c.1440C>T (p.Asn480=) rs554373758 0.00003
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_002474.3(MYH11):c.1569G>A (p.Glu523=) rs1555562769
NM_017668.3(NDE1):c.*388del rs543763112

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