List of variants in gene MLH1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)	rs147542208	0.00001
NM_000249.4(MLH1):c.100G>T (p.Glu34Ter)
NM_000249.4(MLH1):c.1039-1G>A	rs267607819
NM_000249.4(MLH1):c.1376C>A (p.Ser459Ter)	rs2083454135
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)	rs63750855
NM_000249.4(MLH1):c.1559-1G>T	rs267607837
NM_000249.4(MLH1):c.1731+1G>A	rs267607853
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)	rs63751428
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs)	rs63751639
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)	rs63749792
NM_000249.4(MLH1):c.238T>G (p.Phe80Val)	rs63749990
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)	rs63750266
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)	rs63750781
NM_000249.4(MLH1):c.546-2A>G	rs267607759
NM_000249.4(MLH1):c.646_647del (p.Ile216fs)
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	rs63751615
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	rs63751711

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