List of variants in gene MLH1 reported as pathogenic for Lynch-like syndrome

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: 46

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	rs63751221	0.00001
NM_000249.4(MLH1):c.1038+1G>C	rs267607816
NM_000249.4(MLH1):c.1081A>T (p.Lys361Ter)	rs786201875
NM_000249.4(MLH1):c.1241_1242del (p.Glu414fs)	rs2083425688
NM_000249.4(MLH1):c.127A>T (p.Lys43Ter)	rs2081161426
NM_000249.4(MLH1):c.1348del (p.Asp450fs)	rs587778906
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	rs63750540
NM_000249.4(MLH1):c.1423del (p.Glu475fs)	rs1575552157
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	rs63749795
NM_000249.4(MLH1):c.1557_1558+7del	rs2083724808
NM_000249.4(MLH1):c.1731+1G>A	rs267607853
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)	rs63749868
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)	rs63750035
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)	rs1416171624
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	rs63751247
NM_000249.4(MLH1):c.1913del (p.Gly638fs)	rs2085411304
NM_000249.4(MLH1):c.1990-1G>T	rs267607884
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	rs63750206
NM_000249.4(MLH1):c.19dup (p.Val7fs)	rs2080886738
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)	rs63750663
NM_000249.4(MLH1):c.2013dup (p.Cys672fs)	rs2085466105
NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter)	rs1553664702
NM_000249.4(MLH1):c.2104-1G>A	rs587778978
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)	rs63750499
NM_000249.4(MLH1):c.2162_2177delinsT (p.Tyr721_Ser726delinsLeu)	rs2085633095
NM_000249.4(MLH1):c.2251_2256del (p.Lys751_Val752del)	rs2085653401
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr)	rs267607908
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	rs63750781
NM_000249.4(MLH1):c.380+1G>A	rs267607745
NM_000249.4(MLH1):c.3G>T (p.Met1Ile)	rs72481822
NM_000249.4(MLH1):c.446dup (p.Ile150fs)	rs2081930857
NM_000249.4(MLH1):c.456_460delinsTGGGGA (p.Glu153fs)	rs2082048690
NM_000249.4(MLH1):c.469del (p.Tyr157fs)	rs63751101
NM_000249.4(MLH1):c.481_482del (p.Thr161fs)	rs2082052550
NM_000249.4(MLH1):c.503dup (p.Asn168fs)	rs63749959
NM_000249.4(MLH1):c.545+1G>T	rs267607765
NM_000249.4(MLH1):c.545+3A>G	rs267607760
NM_000249.4(MLH1):c.588del (p.Lys196fs)	rs63751653
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	rs63751615
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	rs63751711
NM_000249.4(MLH1):c.678-2A>T	rs587779035
NM_000249.4(MLH1):c.687del (p.Ile229fs)	rs2082522248
NM_000249.4(MLH1):c.790+1G>A	rs267607789
NM_000249.4(MLH1):c.790+1del	rs267607798
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)	rs63751194
NM_000249.4(MLH1):c.905_911del (p.Asn302fs)	rs2082968071

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