List of variants reported as likely benign for Marfan and Marfan-related disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.1211+19C>T	rs182600375	0.00178
NM_003036.4(SKI):c.2184G>C (p.Pro728=)	rs543584871	0.00167
NM_003036.4(SKI):c.216C>T (p.Pro72=)	rs756778048	0.00083
NM_003036.4(SKI):c.1593T>C (p.Pro531=)	rs144279718	0.00065
NM_003036.4(SKI):c.1734C>T (p.Ser578=)	rs117443908	0.00046
NM_005902.4(SMAD3):c.207-26779C>T	rs539491144	0.00041
NM_003036.4(SKI):c.948G>A (p.Lys316=)	rs368128582	0.00032
NM_005902.4(SMAD3):c.207-10G>A	rs201912204	0.00025
NM_003036.4(SKI):c.799C>T (p.Leu267=)	rs140178396	0.00016
NM_003036.4(SKI):c.970-5C>T	rs755318392	0.00011
NM_005902.4(SMAD3):c.207-13C>T	rs200548744	0.00010
NM_003036.4(SKI):c.360C>T (p.Arg120=)	rs375024753	0.00006
NM_003036.4(SKI):c.994A>G (p.Ile332Val)	rs374264201	0.00005
NM_003036.4(SKI):c.726C>T (p.Ala242=)	rs139227600	0.00004
NM_003238.6(TGFB2):c.798T>A (p.Thr266=)	rs376354795	0.00002
NM_003036.4(SKI):c.1152C>T (p.Pro384=)	rs200160702	0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=)	rs1446526482	0.00001
NM_003238.6(TGFB2):c.1086+20G>C	rs201814950	0.00001
NM_005902.4(SMAD3):c.206+11G>T	rs763321881	0.00001
NM_005902.4(SMAD3):c.658+15G>C	rs1296574345	0.00001
NM_003036.4(SKI):c.1887G>A (p.Glu629=)	rs771953750
NM_003036.4(SKI):c.969+10C>T
NM_003238.6(TGFB2):c.643+11_643+12del
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)

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