ClinVar Miner

List of variants in gene MLH1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000249.3(MLH1):c.-93G>A rs1800734 0.22121
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000249.4(MLH1):c.1410-54C>T rs7633154 0.04850
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.588+11G>C rs4647258 0.00993
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
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.1963A>G (p.Ile655Val) rs55907433 0.00297
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.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.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.1166G>A (p.Arg389Gln) rs63750361 0.00020
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.1050A>G (p.Pro350=) rs137937003 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000249.4(MLH1):c.242C>T (p.Thr81Ile) rs63751069 0.00006
NM_000249.4(MLH1):c.552A>T (p.Ser184=) rs35225190 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.1020C>G (p.Ser340=) rs374770981 0.00005
NM_000249.4(MLH1):c.1392T>C (p.Pro464=) rs63750201 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.3(MLH1):c.-100T>C rs4647204 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 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.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 0.00004
NM_000249.3(MLH1):c.-33T>G rs201247839 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys) rs550914672 0.00003
NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr) rs377484262 0.00002
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp) rs63751703 0.00002
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser) rs56250509 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000249.4(MLH1):c.108T>C (p.Ile36=) rs730881747 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1551A>G (p.Gly517=) rs373322226 0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.1902G>A (p.Gly634=) rs376866470 0.00001
NM_000249.4(MLH1):c.1989+14C>T rs763711727 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=) rs550890395 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.2167G>A (p.Ala723Thr) rs1392532273 0.00001
NM_000249.4(MLH1):c.2172G>A (p.Leu724=) rs780045031 0.00001
NM_000249.4(MLH1):c.2228T>G (p.Leu743Arg) rs864622258 0.00001
NM_000249.4(MLH1):c.222T>C (p.Asp74=) rs755073786 0.00001
NM_000249.4(MLH1):c.24T>A (p.Ile8=) rs748406142 0.00001
NM_000249.4(MLH1):c.261C>T (p.Ser87=) rs63750923 0.00001
NM_000249.4(MLH1):c.351G>A (p.Thr117=) rs61751643 0.00001
NM_000249.4(MLH1):c.452C>T (p.Thr151Met) rs776969475 0.00001
NM_000249.4(MLH1):c.51C>T (p.Asn17=) rs761498953 0.00001
NM_000249.4(MLH1):c.589-17T>A rs754180618 0.00001
NM_000249.4(MLH1):c.884+10C>T rs864622424 0.00001
NM_000249.4(MLH1):c.885-5G>T rs267607802 0.00001
NM_000249.4(MLH1):c.976G>A (p.Val326Met) rs730881739 0.00001
NM_000249.3(MLH1):c.-117G>T rs565891017
NM_000249.4(MLH1):c.1020C>T (p.Ser340=) rs374770981
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter) rs1553648220
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe) rs143009528
NM_000249.4(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.4(MLH1):c.1359G>A (p.Lys453=) rs756099600
NM_000249.4(MLH1):c.1410-4G>T rs1057520517
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.4(MLH1):c.1438_1439del (p.Glu480fs)
NM_000249.4(MLH1):c.1476A>C (p.Ala492=) rs864622619
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.1559T>G (p.Val520Gly) rs1200485334
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg) rs63750449
NM_000249.4(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.4(MLH1):c.1925T>C (p.Leu642Pro)
NM_000249.4(MLH1):c.196A>G (p.Thr66Ala) rs876660926
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys) rs755577490
NM_000249.4(MLH1):c.2091C>T (p.Leu697=) rs536488280
NM_000249.4(MLH1):c.2121C>T (p.Ser707=) rs886038273
NM_000249.4(MLH1):c.2184T>A (p.Ile728=) rs1057524100
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val) rs267607885
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.31C>G (p.Leu11Val) rs864622596
NM_000249.4(MLH1):c.454-3C>G rs2082047640
NM_000249.4(MLH1):c.463C>T (p.Leu155Phe) rs749370894
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.516A>G (p.Glu172=) rs748128054
NM_000249.4(MLH1):c.546-16del rs1559529693
NM_000249.4(MLH1):c.552A>G (p.Ser184=)
NM_000249.4(MLH1):c.589-9G>T rs566497442
NM_000249.4(MLH1):c.603A>G (p.Val201=) rs2125808325
NM_000249.4(MLH1):c.633A>T (p.Ser211=) rs2125808875
NM_000249.4(MLH1):c.706A>G (p.Lys236Glu) rs1553645179
NM_000249.4(MLH1):c.748A>T (p.Asn250Tyr) rs786203107
NM_000249.4(MLH1):c.74T>C (p.Ile25Thr) rs63750514
NM_000249.4(MLH1):c.884+448T>C
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000249.4(MLH1):c.953A>G (p.His318Arg) rs1559543995
NM_000249.4(MLH1):c.970del (p.Glu324fs) rs876658247

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