ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2 by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.1239-8C>G rs869312178
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) rs1580567084
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182

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