ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs) rs1559551570
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.4(MLH1):c.1569del (p.Met524fs) rs1559574795
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-2A>G rs267607852
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1745del (p.Leu582fs) rs587778942
NM_000249.4(MLH1):c.1765_1769del (p.Ala589fs)
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs) rs1553663750
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter) rs1553664436
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.34dup (p.Asp12fs) rs1553637196
NM_000249.4(MLH1):c.381-1G>A rs267607744
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.404dup (p.Lys136fs) rs1553642079
NM_000249.4(MLH1):c.783del (p.Phe261fs) rs2125823340
NM_000249.4(MLH1):c.793del (p.Arg265fs) rs863225384
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs) rs1553648047

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