ClinVar Miner

List of variants reported as benign for aortic aneurysm, familial thoracic 4 by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
MYH11:c.503-14_503-12del rs141564071

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