ClinVar Miner

List of variants in gene MLH1 reported as pathogenic for Muir-Torré syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1039-2329_1409+827del
NM_000249.4(MLH1):c.1972del (p.Leu658fs)
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.791-1G>C rs267607795

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