List of variants in gene MLH1 reported by Clinical Genetics and Genomics, Karolinska University Hospital

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	rs63751275	0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	rs63751221	0.00001
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)	rs63749906
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)	rs63751109
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)	rs63750855
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	rs63751247
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	rs63750610
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)	rs63750281
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)	rs550890395
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	rs63750641
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	rs63750781
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)	rs63750706
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)	rs63750823
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	rs63751194
NM_000249.4(MLH1):c.843dup (p.Ala282fs)	rs2082749588

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