ClinVar Miner

List of variants reported as pathogenic by Ding PR Lab, Sun Yat-sen University Cancer Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000249.3:c.(1409+1_1410-1)_(1558+1_1559-1)del
NM_000249.3:c.(1896+1_1897-1)_*193del
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.473del (p.Asn158fs) rs2082051355
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194

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