ClinVar Miner

List of variants reported as likely pathogenic for blood coagulation disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)
NM_000419.5(ITGA2B):c.189-1G>C
NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)
NM_000552.5(VWF):c.2968-1G>A
NM_000552.5(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114

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