List of variants reported as benign for Weill-Marchesani syndrome by Genome-Nilou Lab

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln)	rs7252299	0.99986
NM_030957.4(ADAMTS10):c.1588-179G>T	rs9749567	0.92646
NM_030957.4(ADAMTS10):c.401= (p.Ser134=)	rs7255721	0.79500
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=)	rs4369638	0.75672
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser)	rs2573652	0.70543
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=)	rs4965613	0.68304
NM_139057.4(ADAMTS17):c.1031+81A>G	rs4965295	0.68113
NM_139057.4(ADAMTS17):c.873+58T>C	rs4965297	0.67726
NM_000428.3(LTBP2):c.2502T>C (p.Thr834=)	rs862031	0.67247
NM_139057.4(ADAMTS17):c.*46C>G	rs2581340	0.65342
NM_139057.4(ADAMTS17):c.873+62C>T	rs4965296	0.57943
NM_139057.4(ADAMTS17):c.2950-45C>T	rs11634977	0.57048
NM_139057.4(ADAMTS17):c.2949+35G>A	rs7175995	0.50353
NM_139057.4(ADAMTS17):c.2796+96G>A	rs12900132	0.49795
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=)	rs7496640	0.40719
NM_139057.4(ADAMTS17):c.617-41A>G	rs7497712	0.40701
NM_139057.4(ADAMTS17):c.*82G>A	rs3825894	0.39172
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu)	rs7496668	0.39054
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=)	rs699374	0.35704
NM_000428.3(LTBP2):c.1987+21G>A	rs862025	0.31731
NM_139057.4(ADAMTS17):c.789+8C>T	rs7496614	0.30495
NM_000428.3(LTBP2):c.1864+22C>A	rs3742794	0.25792
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=)	rs4965583	0.18423
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr)	rs28567966	0.15651
NM_030957.4(ADAMTS10):c.811-149G>A	rs7248483
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=)	rs12907333

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