ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 6 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) rs28942096 0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) rs28941781 0.00001
NM_147196.3(TMIE):c.122_125del (p.Pro41fs) rs876661301
NM_147196.3(TMIE):c.170G>A (p.Trp57Ter) rs267607120
NM_147196.3(TMIE):c.94-2_98delinsC rs876657371

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