List of variants reported as pathogenic for Marfan and Marfan-related disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	rs137854466	0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	rs113605875	0.00001
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)	rs137854462
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)	rs140603
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	rs137854467
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	rs113871094
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)	rs387907306
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	rs104893819
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)	rs863223829
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	rs111854391

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