ClinVar Miner

List of variants studied for coagulation protein disease by GeneReviews

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000130.5(F5):c.1000A>G (p.Arg334Gly) rs118203905 0.00021
NM_000130.5(F5):c.1001G>C (p.Arg334Thr) rs118203906 0.00007
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000133.4(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.4(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu) rs61749388
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000602.5(SERPINE1):c.356dup (p.Ile120fs) rs1554362148
NM_000602.5(SERPINE1):c.699_700dup (p.Thr234fs) rs1194865614

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