ClinVar Miner

List of variants studied for generalized juvenile polyposis/juvenile polyposis coli by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_000455.5(STK11):c.1012G>A (p.Val338Met) rs587782302 0.00001
NM_000455.5(STK11):c.1148G>A (p.Arg383His) rs730881990 0.00001
NM_000455.5(STK11):c.817G>A (p.Ala273Thr) rs587782199 0.00001
NM_000455.5(STK11):c.-2_290+1013del
NM_000455.5(STK11):c.291-2_374+91del rs2145420502
NM_005359.6(SMAD4):c.1183G>C (p.Gly395Arg) rs2144451986

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