ClinVar Miner

List of variants reported as likely pathogenic for colorectal neoplasm by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs) rs2104368213
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs) rs1669432834
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000251.3(MSH2):c.2367del (p.Leu790fs) rs1667397201
NM_000251.3(MSH2):c.2562del (p.Gln855fs) rs1114167836
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile) rs1783517960
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
NM_001904.4(CTNNB1):c.1296_1298del (p.Tyr432_Lys433delinsTer) rs2078362331

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