List of variants in gene MLH1 reported as pathogenic by Mendelics

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)	rs63750316
NM_000249.4(MLH1):c.1972del (p.Leu658fs)
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)	rs41542214
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)	rs587778983
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter)	rs1559524405
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	rs63751711
NM_000249.4(MLH1):c.791-1G>C	rs267607795
NM_000249.4(MLH1):c.791-5T>G	rs267607788

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