List of variants reported as likely pathogenic for Usher syndrome type 1F by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.1997+1G>A	rs763797356	0.00001
NM_001384140.1(PCDH15):c.3717+2dup	rs1248401224	0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)	rs767966376	0.00001
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)	rs1193650682
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)	rs1057517251
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)	rs758685587
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs)	rs2133664431
NM_001384140.1(PCDH15):c.706-3_717del	rs769348776
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)	rs1287068204

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