ClinVar Miner

List of variants in gene LRTOMT, TOMT studied for Deafness, autosomal recessive 63

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Total variants: 13
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HGVS dbSNP
NM_001145308.4(LRTOMT):c.172C>T (p.Arg58Ter) rs1298804148
NM_001145308.4(LRTOMT):c.189G>A (p.Thr63=) rs556093010
NM_001145308.4(LRTOMT):c.196C>G (p.Leu66Val) rs876657864
NM_001145308.4(LRTOMT):c.209G>A (p.Arg70Gln) rs188715129
NM_001145308.4(LRTOMT):c.222A>G (p.Ser74=) rs397516626
NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) rs137853185
NM_001145308.4(LRTOMT):c.276C>T (p.Pro92=) rs886048629
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.352G>A (p.Val118Ile) rs181092713
NM_001145308.4(LRTOMT):c.358+4A>C rs545947177
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=)

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