List of variants reported as likely pathogenic for Aortic valve disease 2

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NC_000012.11:g.(?_114803950)_(114823392_?)dup
NM_005585.5(SMAD6):c.1440dup (p.Ile481fs)
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter)	rs1893037722
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)	rs760571406
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter)	rs1259557323
NM_005585.5(SMAD6):c.865A>T (p.Lys289Ter)	rs2140596481
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)
NM_181486.4(TBX5):c.243-1G>A	rs1871673582
NM_181486.4(TBX5):c.363-2A>G	rs1565941072
NM_181486.4(TBX5):c.486C>A (p.Asn162Lys)	rs2136416601
NM_181486.4(TBX5):c.511-1del
NM_181486.4(TBX5):c.658_660del (p.His220del)	rs1871328960
NM_181486.4(TBX5):c.756-2A>G	rs1869545659

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