ClinVar Miner

List of variants in gene MLH1 studied for Muir-Torre syndrome

Included ClinVar conditions (7):
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000249.3(MLH1):c.-93G>A rs1800734 0.22121
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys) rs63750465 0.00004
NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg) rs1437454428 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000249.4(MLH1):c.-11C>T rs776898290 0.00001
NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu) rs774878513 0.00001
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn) rs373767220 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1896+5G>A rs759870594 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.2254G>C (p.Val752Leu) rs1196350669 0.00001
NM_000249.4(MLH1):c.29G>A (p.Arg10Gln) rs777971423 0.00001
NM_000249.4(MLH1):c.454G>A (p.Val152Met) rs748417604 0.00001
NM_000249.4(MLH1):c.650G>A (p.Arg217His) rs762099920 0.00001
NM_000249.4(MLH1):c.821A>G (p.Lys274Arg) rs769958855 0.00001
NM_000249.4(MLH1):c.842C>G (p.Ala281Gly) rs63749950 0.00001
NM_000249.4(MLH1):c.1039-2329_1409+827del
NM_000249.4(MLH1):c.1039-3C>G rs730881737
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn) rs587782621
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.185A>G (p.Gln62Arg) rs2081171469
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1972del (p.Leu658fs)
NM_000249.4(MLH1):c.1990-17G>C rs1057521535
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.4(MLH1):c.229T>G (p.Cys77Gly) rs63749859
NM_000249.4(MLH1):c.242C>G (p.Thr81Ser) rs63751069
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.536TTG[1] (p.Val180del) rs786201988
NM_000249.4(MLH1):c.53G>A (p.Arg18His) rs1553637254
NM_000249.4(MLH1):c.553G>A (p.Val185Ile) rs63750012
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.589-1G>A rs587779027
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.670G>A (p.Val224Ile) rs1553644251
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.726G>A (p.Met242Ile) rs1559534445
NM_000249.4(MLH1):c.791-1G>C rs267607795
NM_000249.4(MLH1):c.816del (p.Arg273fs) rs2125837110
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) rs774689817
NM_000249.4(MLH1):c.885-1G>A rs1553647894
NM_000249.4(MLH1):c.91G>A (p.Ala31Thr) rs749671520
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994

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