ClinVar Miner

List of variants studied for colonic neoplasm by 3DMed Clinical Laboratory Inc

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
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.1803G>C (p.Glu601Asp) rs1447250546
NM_000038.6(APC):c.2986A>G (p.Ser996Gly) rs1554084628
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.6(APC):c.3381G>C (p.Gln1127His) rs1554084977
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) rs754067085
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.5026_5028del (p.Arg1676del) rs768369050
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) rs773178712
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn) rs768922376
NM_000038.6(APC):c.6553A>G (p.Ser2185Gly) rs1060503292
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) rs1554087829
NM_000038.6(APC):c.6994G>A (p.Gly2332Ser) rs1389311736
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) rs747797803
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000179.2(MSH6):c.1808dup (p.Glu604fs) rs1553413200
NM_000179.2(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.3(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756
NM_006231.3(POLE):c.1396A>G (p.Thr466Ala) rs761765763

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