ClinVar Miner

List of variants studied for blood coagulation disease by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
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_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000128.4(F11):c.434A>G (p.His145Arg) rs199657604 0.00005
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000313.4(PROS1):c.149A>C (p.Lys50Thr) rs745579260 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NM_000312.4(PROC):c.1218G>A (p.Met406Ile) rs780456728 0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) rs1657743081 0.00001
NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter) rs775478465 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_019616.4(F7):c.615+1G>T rs769452933 0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_000128.4(F11):c.214C>T (p.Arg72Ter)
NM_000128.4(F11):c.896C>G (p.Thr299Ser)
NM_000132.4(F8):c.1571C>T (p.Pro524Leu)
NM_000132.4(F8):c.225T>A (p.Asp75Glu)
NM_000132.4(F8):c.332C>T (p.Ala111Val)
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.5096A>G (p.Tyr1699Cys)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.783del (p.Pro262fs)
NM_000132.4(F8):c.787G>A (p.Gly263Ser)
NM_000133.4(F9):c.827_828del (p.Thr276fs)
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000185.4(SERPIND1):c.557_558del (p.Phe186fs)
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
NM_000301.5(PLG):c.677del (p.Asn226fs)
NM_000313.4(PROS1):c.268C>T (p.Arg90Cys)
NM_000313.4(PROS1):c.557G>A (p.Cys186Tyr) rs779391826
NM_000313.4(PROS1):c.769_770del (p.Val257fs)
NM_000313.4(PROS1):c.815G>A (p.Gly272Glu)
NM_000377.3(WAS):c.629C>G (p.Ser210Ter)
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) rs137852906
NM_000488.4(SERPINC1):c.1351_1352dup (p.Ile452fs)
NM_000488.4(SERPINC1):c.1384T>C (p.Cys462Arg)
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter) rs121909562
NM_000488.4(SERPINC1):c.938T>C (p.Met313Thr)
NM_000505.4(F12):c.1561G>A (p.Glu521Lys)
NM_000505.4(F12):c.303_304del (p.His101fs)
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000821.7(GGCX):c.1282C>T (p.Pro428Ser)
NM_001001548.3(CD36):c.1313_1316dup (p.Leu440fs)
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_005141.5(FGB):c.1214T>G (p.Phe405Cys)
NM_005141.5(FGB):c.569A>G (p.Asn190Ser)
NM_005570.4(LMAN1):c.1366C>T (p.Arg456Ter)
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.64G>A (p.Val22Ile)
NM_019616.4(F7):c.80del (p.Glu27fs)
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.124-2A>G
NM_021870.3(FGG):c.702G>T (p.Trp234Cys)
NM_021871.4(FGA):c.1517del (p.Leu506fs)
NM_021871.4(FGA):c.448C>T (p.Gln150Ter) rs763715993
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
NM_024747.6(HPS6):c.452del (p.Pro151fs)
NM_032383.5(HPS3):c.1151A>C (p.His384Pro)
NM_181507.2(HPS5):c.927_928del (p.Gly310fs)

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