ClinVar Miner

List of variants reported as uncertain significance for digestive system cancer by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val) rs116232047 0.00149
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp) rs551818122 0.00013
NM_001318789.2(TLR2):c.1340G>A (p.Arg447Gln) rs374122287 0.00011
NM_173842.3(IL1RN):c.496G>A (p.Val166Ile) rs143208167 0.00010
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) rs200261147 0.00006
NM_173842.3(IL1RN):c.68C>T (p.Thr23Met) rs55860727 0.00004
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr) rs63750882 0.00001
NM_000249.4(MLH1):c.-11C>T rs776898290 0.00001
NM_000249.4(MLH1):c.842C>G (p.Ala281Gly) rs63749950 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala) rs1559473531
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr) rs1559458957
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile) rs1559309649

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