ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 16 by Genetics Department, Hospital Ramon y Cajal-IRYCIS

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_153700.2(STRC):c.3823G>T (p.Glu1275Ter)	rs2507584919
NM_153700.2(STRC):c.4096G>T (p.Gly1366Ter)	rs758046644
NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs)	rs2507580211

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