List of variants reported as likely pathogenic for Stickler syndrome type 1 by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)	rs2136571080
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp)	rs2136567807
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del)	rs2136567630
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)	rs1269619781
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)	rs2136538046
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)	rs1592206729
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)	rs753342774
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	rs886043356
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	rs121912870

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