ClinVar Miner

List of variants studied for Usher syndrome, type 2C by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 10
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NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro)
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr)
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn)
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) rs41302834
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile)

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