ClinVar Miner

List of variants in gene MLH1 reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
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.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.1908G>A (p.Leu636=) rs1800145 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 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.552A>T (p.Ser184=) rs35225190 0.00006
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.1020C>G (p.Ser340=) rs374770981 0.00005
NM_000249.4(MLH1):c.1392T>C (p.Pro464=) rs63750201 0.00005
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 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.45G>C (p.Val15=) rs768409958 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000249.4(MLH1):c.108T>C (p.Ile36=) rs730881747 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.1938T>C (p.Tyr646=) rs786202774 0.00001
NM_000249.4(MLH1):c.2034A>G (p.Lys678=) rs894876691 0.00001
NM_000249.4(MLH1):c.2190T>C (p.Pro730=) rs1057521673 0.00001
NM_000249.4(MLH1):c.222T>C (p.Asp74=) rs755073786 0.00001
NM_000249.4(MLH1):c.351G>A (p.Thr117=) rs61751643 0.00001
NM_000249.4(MLH1):c.454-6G>A rs781238673 0.00001
NM_000249.4(MLH1):c.636C>T (p.Thr212=) rs138735345 0.00001
NM_000249.4(MLH1):c.677+10T>C rs979056997 0.00001
NM_000249.4(MLH1):c.885-5G>T rs267607802 0.00001
NM_000249.4(MLH1):c.918T>C (p.Asn306=) rs587779054 0.00001
NM_000249.4(MLH1):c.990C>T (p.Ile330=) rs372578171 0.00001
NM_000249.4(MLH1):c.1008C>T (p.Gly336=) rs863224338
NM_000249.4(MLH1):c.1039-10_1039-8dup rs57509953
NM_000249.4(MLH1):c.1095T>C (p.Ser365=) rs746800098
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1404C>T (p.Asn468=) rs1553651572
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1476A>C (p.Ala492=) rs864622619
NM_000249.4(MLH1):c.1542T>C (p.Asn514=) rs775456144
NM_000249.4(MLH1):c.1732-7T>C rs745745276
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg) rs63750449
NM_000249.4(MLH1):c.2103+10_2103+14del rs864622755
NM_000249.4(MLH1):c.2157T>C (p.Ile719=)
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.4(MLH1):c.621A>G (p.Leu207=) rs770554901
NM_000249.4(MLH1):c.780C>T (p.Leu260=) rs587779038
NM_000249.4(MLH1):c.876G>A (p.Leu292=) rs773452312
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994

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