ClinVar Miner

List of variants in gene combination LRTOMT, TOMT reported as pathogenic for Deafness, autosomal recessive 63

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Total variants: 5
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HGVS dbSNP
NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) rs137853185
NM_001145308.4(LRTOMT):c.313T>C (p.Trp105Arg) rs137853186
NM_001145308.4(LRTOMT):c.328G>A (p.Glu110Lys) rs137853187
NM_001145308.4(LRTOMT):c.333C>G (p.Tyr111Ter) rs137853188
NM_001145308.4(LRTOMT):c.358+4A>C rs545947177

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