ClinVar Miner

List of variants reported as uncertain significance by Karsan Lab, BC Cancer Agency

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002003.5(FCN1):c.454G>A (p.Gly152Arg) rs772642922 0.00007
NM_003112.5(SP4):c.2068C>T (p.Arg690Trp) rs869025250 0.00001
NM_000038.6(APC):c.2158A>G (p.Met720Val) rs869025248
NM_001143998.2(SEC14L1):c.100C>G (p.Pro34Ala) rs776854628
NM_001377935.1(RAPGEF1):c.1712A>G (p.Tyr571Cys) rs869025251
NM_016627.5(AMZ2):c.521C>A (p.Thr174Lys) rs782698957
NM_017510.6(TMED9):c.77T>A (p.Leu26Gln) rs869025249
NM_017945.5(SLC35A5):c.353T>G (p.Leu118Arg) rs869025247
NM_018959.4(DAZAP1):c.1213T>C (p.Tyr405His) rs869025246
NM_030938.5(VMP1):c.331_332del (p.Leu111fs) rs869025245
NM_130446.4(KLHL6):c.247T>C (p.Phe83Leu) rs748341250
NM_130446.4(KLHL6):c.268C>G (p.Leu90Val) rs548549593

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