ClinVar Miner

Variants in gene MLH1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 57
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
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.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
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.589-15C>T rs55658850 0.00582
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
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.-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.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.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.1040C>A (p.Thr347Asn) rs201541505 0.00017
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.2001C>T (p.Asp667=) rs63750014 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
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.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000249.4(MLH1):c.545+19G>T rs41285099 0.00007
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.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000249.4(MLH1):c.207+12C>T rs121909450 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.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn) rs587779951 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser) rs143009528
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.4(MLH1):c.1559-11T>C rs730881750
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.290A>G (p.Tyr97Cys) rs773647920

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