List of variants reported as likely pathogenic for Marshall syndrome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.2508dup (p.Leu837fs)	rs1663313424
NM_001854.4(COL11A1):c.2654C>T (p.Thr885Met)	rs550201657
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)	rs2525109250
NM_001854.4(COL11A1):c.298del (p.Ser100fs)	rs2526190236
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	rs1553193910

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