List of variants in gene MLH1 reported as uncertain significance by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.453G>A (p.Thr151=)	rs369521379	0.00006
NM_000249.4(MLH1):c.306+4A>G	rs267607733	0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=)	rs63751665	0.00001
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)	rs63751701
NM_000249.4(MLH1):c.116G>T (p.Cys39Phe)	rs63751701
NM_000249.4(MLH1):c.1612T>G (p.Trp538Gly)	rs1559575214
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg)	rs63750059
NM_000249.4(MLH1):c.1731+6T>G	rs587778940
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp)	rs267607864
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)	rs63751682
NM_000249.4(MLH1):c.2103G>A (p.Gln701=)	rs63750603
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)	rs267607893
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)	rs267607893
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)	rs267607901
NM_000249.4(MLH1):c.2262del (p.Arg755fs)	rs267607904
NM_000249.4(MLH1):c.2265G>C (p.Arg755Ser)	rs267607895
NM_000249.4(MLH1):c.2269T>A (p.Ter757Lys)	rs587778995
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)	rs63751665
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr)	rs63750144

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