ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 16 by King Laboratory, University of Washington

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu) rs371994634 0.00004
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)

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