ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_000249.3(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.3(MLH1):c.1732-2A>G rs267607852
NM_000249.3(MLH1):c.1907_1920del (p.Leu636fs) rs1553663750
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.2032A>T (p.Lys678Ter) rs1553664436
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.207+2T>C rs267607722
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.3(MLH1):c.34dup (p.Asp12fs) rs1553637196
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.381-1G>C rs267607744
NM_000249.3(MLH1):c.404dup (p.Lys136fs) rs1553642079
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.3(MLH1):c.960_964dup (p.Ile322fs) rs1553648047

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