ClinVar Miner

List of variants studied for digestive system cancer by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro) rs747886467 0.00004
NM_000038.6(APC):c.1435T>A (p.Leu479Met) rs780577693 0.00001
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000251.3(MSH2):c.146A>T (p.Asp49Val) rs63750335 0.00001
NM_000455.5(STK11):c.1148G>A (p.Arg383His) rs730881990 0.00001
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg) rs587781633 0.00001
NM_000501.4(ELN):c.898A>T (p.Thr300Ser) rs766735416 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_000038.6(APC):c.1703G>T (p.Ser568Ile) rs962373452
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter) rs766905993
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000249.4(MLH1):c.1039-1G>T
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)
NM_000455.5(STK11):c.375-19del rs2080764943
NM_000455.5(STK11):c.716G>A (p.Trp239Ter) rs730881975
NM_000534.5(PMS1):c.440G>A (p.Arg147Lys) rs113137368
NM_000535.7(PMS2):c.1145-2_1145-1del
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_003242.6(TGFBR2):c.1355T>C (p.Leu452Pro) rs1699393884
NM_005359.6(SMAD4):c.530A>C (p.His177Pro) rs1568205026

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