ClinVar Miner

List of variants in gene MLH1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
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.1852A>G (p.Lys618Glu) rs35001569 0.00399
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.-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.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.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 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.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 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_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
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.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000249.4(MLH1):c.1164C>T (p.Ser388=) rs1060504014 0.00001
NM_000249.4(MLH1):c.1401C>T (p.Ser467=) rs587778910 0.00001
NM_000249.4(MLH1):c.1452T>C (p.Asp484=) rs587778916 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe) rs63750062 0.00001
NM_000249.4(MLH1):c.1896+5G>A rs759870594 0.00001
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala) rs63751070 0.00001
NM_000249.4(MLH1):c.452C>T (p.Thr151Met) rs776969475 0.00001
NM_000249.4(MLH1):c.458A>G (p.Glu153Gly) rs770023778 0.00001
NM_000249.4(MLH1):c.636C>T (p.Thr212=) rs138735345 0.00001
NM_000249.4(MLH1):c.1039-10_1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-11_1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-1G>A rs267607819
NM_000249.4(MLH1):c.1039-29_1039-24del rs1441824996
NM_000249.4(MLH1):c.1039-30_1039-29insTT
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTA rs535965616
NM_000249.4(MLH1):c.1039-8dup rs57509953
NM_000249.4(MLH1):c.1224C>G (p.Pro408=) rs1575536100
NM_000249.4(MLH1):c.1376C>A (p.Ser459Ter) rs2083454135
NM_000249.4(MLH1):c.1388G>A (p.Gly463Glu) rs2083457261
NM_000249.4(MLH1):c.1426G>A (p.Asp476Asn) rs2083696231
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1558+6T>C rs730881749
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1668-3C>G rs267607844
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1737A>G (p.Pro579=) rs1553662601
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1790G>T (p.Trp597Leu) rs63750604
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) rs63751428
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.1884_1888del (p.Leu628fs) rs63751639
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val) rs267607885
NM_000249.4(MLH1):c.2221C>A (p.Leu741Met) rs786203583
NM_000249.4(MLH1):c.2256C>A (p.Val752=) rs2085654744
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.437A>G (p.Gln146Arg) rs1559521320
NM_000249.4(MLH1):c.585A>C (p.Lys195Asn) rs2125805832
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.868C>T (p.Pro290Ser) rs1553646744

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