ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NC_000003.11:g.(37067499_37070274)_(37070424_37081676)[3]
NC_000003.11:g.(37067499_37070274)_(37070424_37081676)dup
NM_000249.4(MLH1):c.1038+1G>A rs267607816
NM_000249.4(MLH1):c.1322del (p.Ala441fs) rs2125885422
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1550del (p.Gly517fs) rs2125903643
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.4(MLH1):c.1803del (p.Asp601fs) rs2125984944
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.441dup (p.Thr148fs) rs2125773395
NM_000249.4(MLH1):c.545+4_545+5del
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-2A>T rs267607759
NM_000249.4(MLH1):c.984_997del (p.His329fs) rs587782265

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