List of variants in gene MLH1 studied for endometrial carcinoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.1039-8T>A	rs193922367	0.01153
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)	rs55907433	0.00297
NM_000249.4(MLH1):c.438A>G (p.Gln146=)	rs377279035	0.00005
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)	rs730881742	0.00004
NM_000249.4(MLH1):c.-11C>A	rs776898290
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe)	rs2125710774
NM_000249.4(MLH1):c.1483dup (p.Thr495fs)
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)	rs63750855
NM_000249.4(MLH1):c.1559-4_1667+63del	rs2125943327
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	rs63750781
NM_000249.4(MLH1):c.588+1G>C	rs267607772
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	rs63751711
NM_000249.4(MLH1):c.790+1G>A	rs267607789

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