List of variants reported as likely pathogenic for Stickler syndrome

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)	rs775754967	0.00005
NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser)	rs535212284	0.00001
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)	rs1553404310
NM_001844.5(COL2A1):c.1681-2_1681-1del	rs1592217071
NM_001851.6(COL9A1):c.1029del (p.Gly344fs)	rs2483425306
NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)	rs200829297
NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter)	rs781682527
NM_001854.4(COL11A1):c.1245+1G>T

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