ClinVar Miner

List of variants studied for Carcinoma of colon by 3DMed Clinical Laboratory Inc

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) rs747797803 0.00002
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) rs773178712 0.00001
NM_000038.6(APC):c.10G>C (p.Ala4Pro) rs774219012
NM_000038.6(APC):c.3381G>C (p.Gln1127His) rs1554084977
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) rs1554087829
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806

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