ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 1 by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944

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