ClinVar Miner

List of variants in gene MLH1 studied for Breast and/or ovarian cancer

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
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.375A>G (p.Ala125=) rs1800144 0.00062
NM_000249.4(MLH1):c.1039-7A>T rs1200394799 0.00061
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00044
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000249.4(MLH1):c.1897-17C>G rs2308316 0.00029
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
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_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.1590C>T (p.Phe530=) rs752241564 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.1067C>T (p.Ser356Phe) rs749334262 0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn) rs200076893 0.00003
NM_000249.4(MLH1):c.462C>T (p.Asp154=) rs192938577 0.00003
NM_000249.4(MLH1):c.1642T>C (p.Tyr548His) rs780317287 0.00002
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000249.4(MLH1):c.1038+8C>A rs751872237 0.00001
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly) rs864622687 0.00001
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn) rs373767220 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000249.4(MLH1):c.1817G>C (p.Gly606Ala) rs1355248187 0.00001
NM_000249.4(MLH1):c.1896+17T>C rs193922368 0.00001
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.4(MLH1):c.343A>G (p.Ile115Val) rs371667663 0.00001
NM_000249.4(MLH1):c.885-5G>T rs267607802 0.00001
NM_000249.4(MLH1):c.1039-10_1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-6dup rs1553650466
NM_000249.4(MLH1):c.1039-8del rs57509953
NM_000249.4(MLH1):c.1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-9_1039-8dup rs57509953
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser) rs143009528
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
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.1902G>C (p.Gly634=) rs376866470
NM_000249.4(MLH1):c.1959G>A (p.Leu653=) rs1800146
NM_000249.4(MLH1):c.2103+1dup rs2085487528
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.381-5A>G rs1060504016
NM_000249.4(MLH1):c.381-75_454-739delinsTAAATC
NM_000249.4(MLH1):c.516A>G (p.Glu172=) rs748128054
NM_000249.4(MLH1):c.558C>T (p.His186=) rs63751050
NM_000249.4(MLH1):c.589-9_589-6del rs587779026
NM_000249.4(MLH1):c.642C>T (p.Asp214=) rs2125809051
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.678-14C>A rs773646445
NM_000249.4(MLH1):c.68A>G (p.Glu23Gly) rs750969880
NM_000249.4(MLH1):c.71T>G (p.Val24Gly) rs754533438
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994

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