ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome by Molecular Genetics Laboratory; Baylor College of Medicine

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_206933.3(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055

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