List of variants in gene MLH1 reported as pathogenic by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	rs63751221	0.00001
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	rs63749795
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	rs63751247
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)	rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)	rs63751310
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	rs63750206
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)	rs63751421
NM_000249.4(MLH1):c.454-13A>G	rs267607749
NM_000249.4(MLH1):c.545+3A>G	rs267607760
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	rs63751615

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