ClinVar Miner

List of variants reported as uncertain significance by Duke University Health System Sequencing Clinic, Duke University Health System

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp) rs375517057 0.00007
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) rs140189382 0.00004
NM_001371596.2(MFSD8):c.291G>C (p.Trp97Cys) rs796052749 0.00003
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_001039591.3(USP9X):c.4973G>A (p.Arg1658Gln)
NM_001044.5(SLC6A3):c.792+4A>T
NM_001271938.2(MEGF8):c.3481C>T (p.Arg1161Trp)
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=) rs1057520312
NM_001407.3(CELSR3):c.5634+1G>T
NM_003060.4(SLC22A5):c.1053-11C>G
NM_003060.4(SLC22A5):c.1390G>A (p.Gly464Arg)
NM_003400.4(XPO1):c.1952A>T (p.Glu651Val)
NM_003737.4(DCHS1):c.9434G>A (p.Gly3145Asp)
NM_004176.5(SREBF1):c.2605G>A (p.Val869Ile)
NM_004438.5(EPHA4):c.209A>T (p.Tyr70Phe)
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_006047.6(RBM12):c.1046A>T (p.Lys349Met)
NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)
NM_006283.3(TACC1):c.1564G>A (p.Glu522Lys)
NM_006283.3(TACC1):c.2186G>A (p.Arg729Gln)
NM_015466.4(PTPN23):c.1679T>C (p.Leu560Pro)
NM_016059.5(PPIL1):c.277A>C (p.Thr93Pro)
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
NM_018133.4(MSL2):c.1102del (p.Ala368fs)
NM_019606.6(MEPCE):c.1552C>T (p.Arg518Ter)
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del) rs759141702
NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg)
NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr) rs371644969
NM_173495.3(PTCHD1):c.1786C>T (p.Arg596Trp)
NM_181675.4(PPP2R2B):c.1280T>C (p.Ile427Thr)
NM_181784.2(SPRED2):c.374delG

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