ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss by Santos-Cortez Lab, University of Colorado School of Medicine

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys) rs367588704 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052

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