ClinVar Miner

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

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000249.3(MLH1):c.100G>A (p.Glu34Lys)
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)
NM_000249.3(MLH1):c.131C>A (p.Ser44Tyr)
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1979T>C (p.Leu660Pro)
NM_000249.3(MLH1):c.1989+5G>C rs267607878
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.207+5G>C rs587781518
NM_000249.3(MLH1):c.2104-1G>A
NM_000249.3(MLH1):c.25_26delCGinsTA (p.Arg9Ter) rs869312767
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.380+1G>T
NM_000249.3(MLH1):c.453+2T>G
NM_000249.3(MLH1):c.790+3A>T rs267607792
NM_000249.3(MLH1):c.790+5G>A
NM_000249.3(MLH1):c.793_794delCGinsGT (p.Arg265Val)

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