ClinVar Miner

List of variants studied for coagulation protein disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00378
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00064
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00025
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000130.5(F5):c.436C>T (p.Arg146Ter) rs767477438 0.00001
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) rs121918478 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00001
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter) rs2526378815
NM_000132.4(F8):c.5453dup (p.Ala1819fs) rs2523885648
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter) rs2497227407
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter) rs1944671082
NM_000552.5(VWF):c.2968-1G>A rs2497535795
NM_000552.5(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) rs1553965519

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