List of variants reported as pathogenic for Usher syndrome type 2C; Febrile seizures, familial, 4

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)	rs757696771	0.00006
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	rs121909762	0.00004
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)	rs777309662	0.00002
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)	rs747622607	0.00002
NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter)	rs767570081	0.00001
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter)	rs727504777	0.00001
NM_032119.4(ADGRV1):c.14971C>T (p.Arg4991Ter)	rs1233334494	0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)	rs373780305	0.00001
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)	rs758718347	0.00001
NM_032119.4(ADGRV1):c.8875C>T (p.Arg2959Ter)	rs768035707	0.00001
NM_032119.4(ADGRV1):c.14404C>T (p.Arg4802Ter)	rs1236715896
NM_032119.4(ADGRV1):c.17386C>T (p.Gln5796Ter)
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)	rs1185617030
NM_032119.4(ADGRV1):c.2612del (p.Gly871fs)	rs983340336
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs)	rs752179149

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