ClinVar Miner

List of variants studied for Usher syndrome type 1 by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246

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