ClinVar Miner

List of variants studied for hematologic disorder by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln) rs142779872 0.00041
NM_005026.5(PIK3CD):c.1607A>G (p.His536Arg) rs1198694875 0.00003
NM_005026.5(PIK3CD):c.971G>A (p.Arg324His) rs773473376 0.00002
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000361.3(THBD):c.670T>G (p.Cys224Gly)
NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)
NM_001791.4(CDC42):c.227A>T (p.Asp76Val)
NM_003120.3(SPI1):c.689G>C (p.Arg230Pro)
NM_139027.6(ADAMTS13):c.2011C>T (p.Pro671Ser)
NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)

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