ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2 by Human Genetics - Radboudumc,Radboudumc

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600

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