ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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NM_000249.3(MLH1):c.100G>A (p.Glu34Lys) rs1559500884
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.113A>C (p.Asn38Thr) rs587778888
NM_000249.3(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1979T>C (p.Leu660Pro) rs1559591546
NM_000249.3(MLH1):c.1989+5G>C rs267607878
NM_000249.3(MLH1):c.207+5G>C rs587781518
NM_000249.3(MLH1):c.2104-1G>A rs587778978
NM_000249.3(MLH1):c.380+1G>T rs267607745
NM_000249.3(MLH1):c.453+2T>G rs267607751
NM_000249.3(MLH1):c.790+3A>T rs267607792
NM_000249.3(MLH1):c.790+5G>A rs267607771
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_001167617.2(MLH1):c.-492_-491delinsTA rs869312767
NM_001354621.1(MLH1):c.-139-2802_-139-2801delinsGT rs1559539068

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