ClinVar Miner

List of variants reported as likely benign for auditory system disorder by Mendelics

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144 0.00347
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro) rs191267920 0.00253
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe) rs868531732

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