ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_007123.5(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_206933.3(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718
NM_206933.3(USH2A):c.13750dup (p.Thr4584fs) rs1553252328
NM_206933.3(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.3(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302

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