ClinVar Miner

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

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
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_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_000135.4(FANCA):c.1882G>A (p.Ala628Thr) rs766422868 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_000081.4(LYST):c.9608G>A (p.Arg3203His)
NM_001364905.1(LRBA):c.1930C>T (p.Pro644Ser) rs1730263409
NM_001375834.1(WIPF1):c.1162A>C (p.Asn388His) rs1684719141
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_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs) rs1293048695
NM_139239.3(NFKBID):c.506G>T (p.Arg169Leu) rs768512398

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