ClinVar Miner

List of variants in gene MLH1 reported as not provided for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp) rs200830026 0.00005
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000249.4(MLH1):c.1897-7C>T rs373078652 0.00001
NM_000249.4(MLH1):c.1039-2329_1409+827del
NM_000249.4(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1558+1G>T rs267607832
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.4(MLH1):c.1731+2247_1897-402del
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly) rs2125984638
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val) rs267607864
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs) rs63750150
NM_000249.4(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs) rs878853785
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?) rs1553666143
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter) rs63749818
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu) rs1060500691
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser) rs4986984
NM_000249.4(MLH1):c.670G>A (p.Val224Ile) rs1553644251
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194

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