ClinVar Miner

List of variants in gene MLH1 reported as pathogenic for Hereditary nonpolyposis colon cancer

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NC_000003.11:g.(37045966_37048481)_(37048555_37050304)del
NC_000003.11:g.(37061955_37067127)_(37067499_37070274)del
NC_000003.11:g.(37061955_37067127)_(37070424_37081676)dup
NC_000003.11:g.(37083823_37089009)_(37089175_37090007)del
NC_000003.12:g.(37042332_37047518)_(37050847_?)del
NC_000003.12:g.(?_36993349)_(37028933_37040185)del
NM_000249.4(MLH1):c.117-2A>G rs267607712
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1409+1G>C rs267607825
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) rs63751592
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1512_1513del (p.Ser505fs)
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) rs63750035
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.4(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.2142del (p.Lys713_Trp714insTer)
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) rs786202767
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg) rs63749859
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.650del (p.Arg217fs)
NM_000249.4(MLH1):c.677+1G>T rs267607778
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.4(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.790+2dup rs267607791
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.912dup (p.Val305fs)

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