ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
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.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.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys) rs550914672 0.00003
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln) rs63749887 0.00002
NM_000249.4(MLH1):c.-11C>T rs776898290 0.00001
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly) rs876659795 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser) rs1064795694 0.00001
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser) rs587781509 0.00001
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala) rs63750948 0.00001
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys) rs201931669 0.00001
NM_000249.4(MLH1):c.943C>T (p.His315Tyr) rs151119913 0.00001
NM_000249.4(MLH1):c.1655CCA[1] (p.Thr553del) rs63751641
NM_000249.4(MLH1):c.1783A>T (p.Ser595Cys) rs876658763
NM_000249.4(MLH1):c.1873T>C (p.Tyr625His) rs1413395234
NM_000249.4(MLH1):c.2105G>C (p.Ser702Thr) rs973343336
NM_000249.4(MLH1):c.2110G>C (p.Val704Leu) rs587781811
NM_000249.4(MLH1):c.2173_2174delinsTT
NM_000249.4(MLH1):c.242C>G (p.Thr81Ser) rs63751069
NM_000249.4(MLH1):c.299G>T (p.Arg100Leu) rs63750266
NM_000249.4(MLH1):c.362A>T (p.Asp121Val) rs730881735
NM_000249.4(MLH1):c.696_698del (p.Cys233del) rs1575480253
NM_000249.4(MLH1):c.91_92delinsTG

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