List of variants in gene MLH1 reported as likely pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	rs63751275	0.00001
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)	rs63751012
NM_000249.4(MLH1):c.116+3A>G	rs1553637475
NM_000249.4(MLH1):c.116+5G>C	rs267607710
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile)	rs1575538276
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)	rs587778937
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)	rs267607875
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)	rs63751662
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)	rs1553664506
NM_000249.4(MLH1):c.208-3C>T	rs267607720
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)	rs267607894
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)	rs1060500698
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	rs63750641
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	rs63750453
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)	rs63750539
NM_000249.4(MLH1):c.454-13A>G	rs267607749

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