ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by GeneID Lab - Advanced Molecular Diagnostics

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703 0.00001
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter) rs1957904821
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs) rs2132953243
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs) rs2132953252
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) rs1553274448

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