List of variants reported as pathogenic for Usher syndrome type 1D

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	rs111033270	0.00016
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	rs111033260	0.00012
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)	rs754391973	0.00001
NM_001384140.1(PCDH15):c.92-528C>T	rs190773725	0.00001
NM_022124.6(CDH23):c.2289+1G>A	rs769433759	0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	rs745571683	0.00001
NM_022124.6(CDH23):c.3428dup (p.His1143fs)	rs1253419936	0.00001
NM_022124.6(CDH23):c.7362+5G>A	rs727502931	0.00001
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)	rs199469706
NM_001384140.1(PCDH15):c.1441-1G>T	rs2133801703
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	rs727504301
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs)	rs2094144598
NM_022124.5(CDH23):c.337del	rs2132200416
NM_022124.6(CDH23):c.1143_1176del	rs764949139
NM_022124.6(CDH23):c.1291-1G>A	rs2132596686
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)	rs750803248
NM_022124.6(CDH23):c.193del (p.Leu65fs)	rs796051861
NM_022124.6(CDH23):c.1987-1G>A	rs1060499714
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)	rs1230303971
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)	rs866435331
NM_022124.6(CDH23):c.3353del (p.Gly1118fs)	rs2132760607
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)	rs796051860
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)	rs121908350
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)	rs121908347
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter)	rs1564794944
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)	rs1564796487
NM_022124.6(CDH23):c.8239del (p.Val2747fs)	rs1554877007
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)	rs1841773052
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
NM_022124.6(CDH23):c.945+1G>A	rs727502919

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