ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (833):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000552.5(VWF):c.817C>T (p.Arg273Trp) rs61753997 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His) rs144727134 0.00002
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His) rs1191857860 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs) rs863224827
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)
NM_001029.5(RPS26):c.181+1del rs1895903499
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)
NM_021870.3(FGG):c.207_208dup (p.Glu70fs) rs2110850824
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709

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