ClinVar Miner

List of variants studied for blood coagulation disease by GeneReviews

Included ClinVar conditions (153):
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ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.1726-59G>A rs3136516 0.38221
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_000506.5(F2):c.*97G>A rs1799963 0.00979
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_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000506.5(F2):c.*96C>T rs72550707 0.00093
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_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
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_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
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
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
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_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000506.5(F2):c.1621C>T (p.Arg541Trp) rs886048338
NM_000506.5(F2):c.1787G>T (p.Arg596Leu) rs387907201
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
NM_001701.4(BAAT):c.858C>G (p.Ser286=) rs80356746
NM_001701.4(BAAT):c.967A>G (p.Ile323Val) rs80356747
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_024747.6(HPS6):c.1066_1067insG (p.Leu356fs) rs281865111
NM_032383.5(HPS3):c.0_217+692del
nsv1067844

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