ClinVar Miner

List of variants in gene ADGRV1 reported as pathogenic for Usher syndrome, type 2C; Febrile seizures, familial, 4

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Total variants: 3
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HGVS dbSNP
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762

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