ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000123.3(ERCC5):c.348_352del (p.Arg116fs) rs1242579404
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) rs1553216524
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_018344.6(SLC29A3):c.122del (p.Pro41fs)
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_138691.3(TMC1):c.236+1G>A rs775428246
NM_144612.6(LOXHD1):c.4480C>T rs201587138

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