ClinVar Miner

List of variants reported as uncertain significance by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00357
NM_017491.5(WDR1):c.1433C>T (p.Thr478Met) rs186889066 0.00080
NM_024598.4(USB1):c.784A>G (p.Met262Val) rs143382202 0.00027
NM_024598.4(USB1):c.512T>C (p.Ile171Thr) rs149725439 0.00017
NM_003200.5(TCF3):c.473G>A (p.Arg158Gln) rs554419240 0.00012
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) rs3820551 0.00009
NM_001145252.3(CFP):c.476G>A (p.Arg159His) rs200131215 0.00007
NM_001282426.2(PIK3CG):c.1540A>G (p.Met514Val) rs199845412 0.00006
NM_012448.4(STAT5B):c.298C>T (p.Arg100Cys) rs199894785 0.00006
NM_017999.5(RNF31):c.2311G>A (p.Glu771Lys) rs142436858 0.00006
NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys) rs149857605 0.00006
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln) rs183320612 0.00004
NM_000433.4(NCF2):c.1568G>A (p.Arg523Gln) rs139108402 0.00003
NM_139239.3(NFKBID):c.773C>T (p.Pro258Leu) rs748957539 0.00003
NM_181078.3(IL21R):c.659C>T (p.Pro220Leu) rs780311714 0.00003
NM_017838.4(NHP2):c.50C>T (p.Ala17Val) rs1467408923 0.00002
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr) rs766422868 0.00001
NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln) rs143969029 0.00001
NM_000448.3(RAG1):c.995G>A (p.Arg332Gln) rs762022709 0.00001
NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser) rs763828661 0.00001
NM_001283009.2(RTEL1):c.2635C>T (p.Arg879Trp) rs142877871 0.00001
NM_001364905.1(LRBA):c.6847G>A (p.Asp2283Asn) rs939898061 0.00001
NM_001364905.1(LRBA):c.6859A>G (p.Lys2287Glu) rs950337550 0.00001
NM_003467.3(CXCR4):c.373C>G (p.Leu125Val) rs1001278766 0.00001
NM_006254.4(PRKCD):c.742G>A (p.Gly248Ser) rs144320413 0.00001
NM_025099.6(CTC1):c.2996C>A (p.Pro999His) rs780572571 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
NM_000063.6(C2):c.1399A>C (p.Asn467His) rs1771039921
NM_000081.4(LYST):c.9608G>A (p.Arg3203His)
NM_000431.4(MVK):c.503_508del (p.Leu168_Asp170delinsHis) rs1885218525
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr) rs1245287257
NM_000536.4(RAG2):c.836T>C (p.Leu279Pro) rs1851074227
NM_001122681.2(SH3BP2):c.1421C>T (p.Thr474Ile) rs746860671
NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp) rs967111874
NM_001270508.2(TNFAIP3):c.1555G>A (p.Gly519Arg) rs762149390
NM_001282225.2(ADA2):c.1443G>T (p.Lys481Asn) rs774795047
NM_001282225.2(ADA2):c.799A>C (p.Lys267Gln) rs1601436115
NM_001364905.1(LRBA):c.1930C>T (p.Pro644Ser) rs1730263409
NM_001375834.1(WIPF1):c.1162A>C (p.Asn388His) rs1684719141
NM_001710.6(CFB):c.1198A>G (p.Thr400Ala) rs1771612209
NM_001770.6(CD19):c.854T>C (p.Leu285Pro) rs764208673
NM_002872.5(RAC2):c.203G>A (p.Arg68Gln) rs1927109339
NM_003664.5(AP3B1):c.944T>C (p.Val315Ala) rs1744194194
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly) rs1829076408
NM_005026.5(PIK3CD):c.817C>T (p.His273Tyr) rs1647586090
NM_005214.5(CTLA4):c.539T>C (p.Leu180Pro) rs1688731438
NM_005546.4(ITK):c.719A>G (p.Tyr240Cys) rs1754673755
NM_006949.4(STXBP2):c.220A>T (p.Ile74Phe) rs2031713036
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs) rs1293048695
NM_032638.5(GATA2):c.856G>C (p.Ala286Pro) rs1443864030
NM_139239.3(NFKBID):c.506G>T (p.Arg169Leu) rs768512398
NM_198253.3(TERT):c.1216G>A (p.Gly406Arg) rs866101734
NM_198253.3(TERT):c.1565G>A (p.Arg522Lys) rs1751108994

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