List of variants in gene MYH11 reported as likely pathogenic for Aortic aneurysm, familial thoracic 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001040113.2(MYH11):c.654+1G>A	rs770424951
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs)	rs1235801428
NM_002474.3(MYH11):c.2180+1G>A
NM_002474.3(MYH11):c.2380C>T (p.Gln794Ter)	rs2151259960
NM_002474.3(MYH11):c.2998-2A>G
NM_002474.3(MYH11):c.3424C>T (p.Arg1142Ter)
NM_002474.3(MYH11):c.3506+1G>A	rs2151240720
NM_002474.3(MYH11):c.3631C>T (p.Gln1211Ter)	rs2040998358
NM_002474.3(MYH11):c.3652-2A>G
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)	rs1555554139
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	rs730880147
NM_002474.3(MYH11):c.3858+1G>A	rs2151225126
NM_002474.3(MYH11):c.530+2T>C
NM_002474.3(MYH11):c.633+1G>A
NM_002474.3(MYH11):c.634-2A>C
NM_002474.3(MYH11):c.766A>G (p.Ile256Val)

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