ClinVar Miner

List of variants studied for Usher syndrome by Molecular Diagnostics Laboratory, M Health: University of Minnesota

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_022124.6(CDH23):c.2289+1G>A rs769433759
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.945+1G>A rs727502919
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.647T>G (p.Val216Gly) rs1571801514

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