ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2 by Baylor Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) rs979094623 0.00003
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) rs1571947757
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) rs1571701072

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