ClinVar Miner

List of variants in gene MLH1 reported as pathogenic for colonic neoplasm

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NC_000003.12:g.36993510_36999509del
NM_000249.4(MLH1):c.1039-2_1409+150del rs2125879653
NM_000249.4(MLH1):c.1039-2_1409+1del rs2125879720
NM_000249.4(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.4(MLH1):c.1238_1239del (p.Thr413fs) rs1553651073
NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs) rs1114167435
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer) rs2125886267
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-2_1667+1del rs2125943381
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-1G>A rs267607854
NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs) rs2125984594
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1896+1G>C rs267607867
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer) rs1553663834
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.1A>T (p.Met1Leu) rs587778967
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.2131dup (p.Ser711fs) rs2148522538
NM_000249.4(MLH1):c.2190del (p.Pro731fs) rs587780683
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.306+2T>G rs1553640340
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.322_335del (p.Ser108fs) rs1553641269
NM_000249.4(MLH1):c.346del (p.Thr116fs) rs63750906
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.365del (p.Gly122fs) rs2125757477
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.4(MLH1):c.460del (p.Asp154fs) rs1575448385
NM_000249.4(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.604del (p.Ala202fs) rs1553644155
NM_000249.4(MLH1):c.631_632del (p.Ser211fs) rs2125808812
NM_000249.4(MLH1):c.665del (p.Asn222fs) rs63750385
NM_000249.4(MLH1):c.677+3A>G rs267607780
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+2T>C rs267607790
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter) rs1553648068

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