ClinVar Miner

List of variants reported as likely benign for Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.346-16G>C rs74009446 0.00136
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_002474.3(MYH11):c.1317C>T (p.Arg439=) rs183292376 0.00015
NM_002474.3(MYH11):c.633+1900G>A rs371799677 0.00013
NM_002474.3(MYH11):c.2082G>A (p.Leu694=) rs370934806 0.00002
NM_002474.3(MYH11):c.5829A>G (p.Gly1943=) rs199752132 0.00001
NM_002474.3(MYH11):c.1047G>A (p.Val349=) rs765006823
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.1908G>A (p.Glu636=) rs1312174913

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