ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 1 by Pars Genome Lab

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003

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