ClinVar Miner

List of variants studied for Usher syndrome type 2A by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022

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