ClinVar Miner

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

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del
NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs) rs2083404326
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) rs1575536219
NM_000249.4(MLH1):c.1612del (p.Trp538fs) rs2084643841
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs) rs2084645057
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1866del (p.Ala623fs) rs587778950
NM_000249.4(MLH1):c.1926dup (p.Ile643fs) rs2085415475
NM_000249.4(MLH1):c.1990-3_2001del rs2085459433
NM_000249.4(MLH1):c.2041del (p.Ala681fs) rs2085472296
NM_000249.4(MLH1):c.345_349del (p.Thr116fs) rs2081714489
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.885-2A>C rs267607805

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