ClinVar Miner

List of variants studied for Usher syndrome by GeneID Lab - Advanced Molecular Diagnostics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_206933.3(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703
NM_206933.3(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.3(USH2A):c.7493del (p.Ser2498fs) rs1553274448

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