ClinVar Miner

List of variants reported as likely benign for hematologic disorder by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile) rs188284396 0.00004
NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser) rs751123192 0.00001
NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys)
NM_001377304.1(GFI1B):c.782C>G (p.Ser261Cys)
NM_002473.6(MYH9):c.2153G>A (p.Arg718Gln) rs1464713086

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