ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (833):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys) rs1573087364 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_000037.4(ANK1):c.2581dup (p.Arg861fs)
NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000377.3(WAS):c.1052del (p.Pro351fs) rs2147266405
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_001322934.2(NFKB2):c.104-1G>C rs2061116343
NM_001791.4(CDC42):c.291G>T (p.Trp97Cys)
NM_001805.4(CEBPE):c.653T>C (p.Val218Ala) rs747524697
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) rs2061880735
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_013314.4(BLNK):c.746+1G>A rs2083906060
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032638.5(GATA2):c.1080G>A (p.Trp360Ter)
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) rs2081712040
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140

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