List of variants studied for Stickler syndrome by Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe)	rs200107989	0.00044
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)	rs775754967	0.00006
NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile)	rs754651566	0.00005
NM_022124.6(CDH23):c.5989G>A (p.Val1997Met)	rs755121910	0.00004
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)	rs1553404310
NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter)	rs781682527

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