ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance for Lynch syndrome

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 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.1270G>A (p.Ala424Thr) rs377433038 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp) rs61751644 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser) rs267607775 0.00003
NM_000249.4(MLH1):c.92C>G (p.Ala31Gly) rs730882127 0.00003
NM_000249.4(MLH1):c.94A>G (p.Ile32Val) rs2020872 0.00003
NM_000249.4(MLH1):c.482C>T (p.Thr161Met) rs763992299 0.00002
NM_000249.4(MLH1):c.-22C>T rs771060933 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.1558+4C>T rs531873434 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe) rs63750062 0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu) rs377241633 0.00001
NM_000249.4(MLH1):c.1896+17T>C rs193922368 0.00001
NM_000249.4(MLH1):c.1897-7C>T rs373078652 0.00001
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys) rs747727493 0.00001
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro) rs750650349 0.00001
NM_000249.3(MLH1):c.-86G>A rs558051715
NM_000249.3(MLH1):c.1668-?_2103+?dup
NM_000249.3(MLH1):c.1732-?_*193dup733
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.4(MLH1):c.1038+4A>C rs1251478879
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTAA rs535965616
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.139A>G (p.Ile47Val) rs1559505924
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.1612T>G (p.Trp538Gly) rs1559575214
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser) rs1559575256
NM_000249.4(MLH1):c.1667+8A>C rs1553658260
NM_000249.4(MLH1):c.1668-5T>G rs1559578408
NM_000249.4(MLH1):c.1731+1G>C rs267607853
NM_000249.4(MLH1):c.1731+6T>G rs587778940
NM_000249.4(MLH1):c.1738G>C (p.Ala580Pro) rs864622530
NM_000249.4(MLH1):c.176T>A (p.Ile59Asn) rs1559506199
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys) rs1416171624
NM_000249.4(MLH1):c.186A>G (p.Gln62=) rs1559506261
NM_000249.4(MLH1):c.1889T>A (p.Ile630Asn) rs1559588836
NM_000249.4(MLH1):c.1925T>A (p.Leu642Gln) rs1559590916
NM_000249.4(MLH1):c.1997G>C (p.Trp666Ser) rs886039424
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro) rs63750242
NM_000249.4(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.4(MLH1):c.204C>G (p.Ile68Met) rs780141938
NM_000249.4(MLH1):c.2054C>A (p.Ser685Tyr) rs1064796101
NM_000249.4(MLH1):c.2087C>T (p.Thr696Ile) rs868502951
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.2269T>A (p.Ter757Lys) rs587778995
NM_000249.4(MLH1):c.306+6C>T rs746641892
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.319A>G (p.Ile107Val) rs572906317
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.4(MLH1):c.546-5del rs1553643965
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.790+4A>T rs267607786
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro) rs138705565
NM_000249.4(MLH1):c.835G>C (p.Val279Leu) rs1559539382
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.4(MLH1):c.90T>G (p.Asn30Lys) rs863224637
NM_000249.4(MLH1):c.920T>C (p.Val307Ala) rs863224638

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