ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 16 by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635 0.00001
NM_153700.2(STRC):c.3499_4701+1del

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