List of variants studied for Stickler syndrome, type 5

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)	rs141556170	0.00111
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser)	rs201985170	0.00009
NM_001852.4(COL9A2):c.1242del (p.Gly415fs)	rs756694568
NM_001852.4(COL9A2):c.1506del (p.Asn503fs)	rs1040081238
NM_001852.4(COL9A2):c.843_846+4del	rs606231376

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