List of variants reported as uncertain significance for Stickler syndrome, type 4

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)	rs192047082	0.00083
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)	rs143848379	0.00061
NM_001851.6(COL9A1):c.876+2dup	rs672601329	0.00030
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)	rs145698301	0.00025
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu)	rs145207010	0.00016
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser)	rs199581593	0.00006
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val)	rs781246762	0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu)	rs757218488	0.00002
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser)	rs774610828	0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser)	rs578034223	0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)	rs571441243	0.00001
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	rs886042009
NM_001851.6(COL9A1):c.1864G>A (p.Gly622Arg)
NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala)	rs1428416801
NM_001851.6(COL9A1):c.2260G>C (p.Gly754Arg)
NM_001851.6(COL9A1):c.2284A>G (p.Ile762Val)	rs2127559477
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter)	rs147237457
NM_001851.6(COL9A1):c.443G>A (p.Gly148Asp)
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu)	rs767995228

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