ClinVar Miner

List of variants in gene ADGRV1 reported as likely pathogenic for Usher syndrome, type 2C

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Total variants: 10
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HGVS dbSNP
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NM_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.1239-8C>G rs869312178
NM_032119.4(ADGRV1):c.12403+1G>T rs527236132
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) rs369793306
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) rs527236131
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) rs1561790371
NM_032119.4(ADGRV1):c.16197-1G>T rs1561805689
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133

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