List of variants reported as pathogenic for dysostosis by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004608.4(TBX6):c.844C>T (p.Arg282Ter)	rs201620629	0.00001
NM_003394.4(WNT10B):c.741del (p.Lys246_Cys247insTer)	rs2137611223
NM_004608.4(TBX6):c.1169dup (p.His391fs)	rs879253776
NM_004608.4(TBX6):c.1179_1180del (p.Gly395fs)	rs879253857
NM_004608.4(TBX6):c.1250dup (p.Leu419fs)	rs786204039
NM_004608.4(TBX6):c.266dup (p.Val91fs)	rs786204040
NM_004608.4(TBX6):c.704dup (p.Met236fs)	rs758051786
Single allele

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