List of variants reported as pathogenic for Stickler syndrome type 2

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)	rs200496207	0.00026
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)	rs72667036
NM_001854.4(COL11A1):c.1191del (p.Asn398fs)
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)	rs121912943
NM_001854.4(COL11A1):c.2754+5G>A	rs1057518666
NM_001854.4(COL11A1):c.2808+1G>A	rs1553223152
NM_001854.4(COL11A1):c.3438+2_3438+3del	rs1557847904
NM_001854.4(COL11A1):c.3655-2del	rs2101074868
NM_001854.4(COL11A1):c.3816+1G>A	rs398122828
NM_001854.4(COL11A1):c.4353_4356+4del
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)	rs866783525
NM_001854.4(COL11A1):c.4459_4464+1del
NM_001854.4(COL11A1):c.4537G>T (p.Gly1513Cys)

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