ClinVar Miner

List of variants studied for hematologic disorder by Reproductive Health Research and Development, BGI Genomics

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.59489
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_006846.4(SPINK5):c.2468del (p.Lys823fs) rs565782662

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