List of variants reported as pathogenic for Matthew-Wood syndrome by Invitae

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_022369.4(STRA6):c.1931C>T (p.Thr644Met)	rs118203960	0.00004
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	rs397518483
NM_000965.5(RARB):c.1193C>G (p.Ser398Ter)	rs1701836507
NM_022369.4(STRA6):c.1676dup (p.Asp560fs)	rs1567177198
NM_022369.4(STRA6):c.267-1G>T	rs773297007
NM_022369.4(STRA6):c.481del (p.Leu161fs)	rs2073763723
NM_022369.4(STRA6):c.985del (p.Val329fs)	rs1595838712

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