ClinVar Miner

List of variants studied for perceptual disorders by UAEU Genomics Laboratory, United Arab Emirates University

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769 0.00007
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.248G>A (p.Trp83Ter)
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_001243133.2(NLRP3):c.2630C>G (p.Ala877Gly)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter)

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