ClinVar Miner

List of variants reported as likely pathogenic for auditory system disease by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs) rs1603326561
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu) rs104886078
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182

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