ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246 0.00001
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007

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