ClinVar Miner

List of variants studied for Usher syndrome by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter) rs377650415
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) rs1561790371
NM_032119.4(ADGRV1):c.16197-1G>T rs1561805689
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter) rs1561843914
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter) rs1561441451
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter) rs1561543496
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) rs1316299165
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
NM_206933.4(USH2A):c.8559-2A>G rs397518039

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