ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 79 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135 0.00001
NM_001128228.3(TPRN):c.1427del (p.Pro476fs) rs387906219
NM_001128228.3(TPRN):c.1530del (p.Thr511fs) rs387906222
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs) rs387906220

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