ClinVar Miner

List of variants reported as pathogenic for auditory system disorder by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) rs727503528
NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) rs727504995
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) rs797045112

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