ClinVar Miner

List of variants studied for nonsyndromic genetic hearing loss by Human Genetics Bochum, Ruhr University Bochum

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.1369G>A (p.Ala457Thr) rs782255256 0.00001
NM_001614.5(ACTG1):c.20C>T (p.Ala7Val)
NM_178335.3(CCDC50):c.1105G>T (p.Asp369Tyr)

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