ClinVar Miner

List of variants studied for colorectal carcinoma by 3DMed Clinical Laboratory Inc

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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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.1984C>A (p.Leu662Ile) rs756859993 0.00002
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.811A>G (p.Met271Val) rs587781464 0.00001
NM_000038.6(APC):c.10G>C (p.Ala4Pro) rs774219012
NM_000038.6(APC):c.1463T>C (p.Leu488Pro) rs368434773
NM_000038.6(APC):c.3160C>T (p.His1054Tyr) rs1195583636
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.6152A>G (p.Lys2051Arg) rs1554087256
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) rs1554087829
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000179.3(MSH6):c.1808dup (p.Glu604fs) rs1553413200
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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