ClinVar Miner

List of variants reported as uncertain significance for hematologic disorder by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_015175.3(NBEAL2):c.1976G>A (p.Arg659Gln) rs567205565 0.00004
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp) rs144046935 0.00002
NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) rs1060499614 0.00001
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser) rs765163545 0.00001
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001754.5(RUNX1):c.1294T>C (p.Cys432Arg) rs1060499613

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