ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_206933.3(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.3(USH2A):c.2195G>T (p.Gly732Val) rs1360258103
NM_206933.3(USH2A):c.8558+5G>A rs746331566
NM_206933.3(USH2A):c.9258+1G>A rs748810737

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