ClinVar Miner

List of variants in gene MLH1 studied for breast cancer

Included ClinVar conditions (61):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
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.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000249.4(MLH1):c.-11C>T rs776898290 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.1989+12A>G rs755976424 0.00001
NM_000249.4(MLH1):c.380+5A>G rs1267759029 0.00001
NM_000249.4(MLH1):c.545+10A>C rs781569222 0.00001
NM_000249.4(MLH1):c.650G>A (p.Arg217His) rs762099920 0.00001
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
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.2155A>G (p.Ile719Val) rs754225520
NM_000249.4(MLH1):c.2247A>G (p.Leu749=) rs786202209
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.393del (p.Asp132fs) rs2081922847
NM_000249.4(MLH1):c.772T>C (p.Phe258Leu) rs2125823165
NM_000249.4(MLH1):c.864A>C (p.Thr288=) rs1457205659
NM_000249.4(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000249.4(MLH1):c.954C>A (p.His318Gln) rs146777069

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