ClinVar Miner

List of variants studied for blood coagulation disease by Revvity Omics, Revvity

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg) rs36222275 0.00112
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882 0.00068
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) rs145042327 0.00065
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_032383.5(HPS3):c.592G>A (p.Val198Ile) rs144990171 0.00039
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_032383.5(HPS3):c.1330C>A (p.His444Asn) rs138303522 0.00026
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_001001548.3(CD36):c.1144C>T (p.Gln382Ter) rs201657731 0.00013
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) rs763529688 0.00008
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly) rs373741115 0.00005
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_001001548.3(CD36):c.1254+1G>A rs148051111 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_000128.4(F11):c.1327C>T (p.Arg443Cys) rs369435407 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00002
NM_001994.3(F13B):c.805+1G>A rs550859190 0.00002
NM_019616.4(F7):c.568C>T (p.Arg190Ter) rs756151764 0.00002
NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys) rs749139864 0.00002
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) rs201457594 0.00002
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_001001548.3(CD36):c.610-2A>G rs745604189 0.00001
NM_001375834.1(WIPF1):c.860C>T (p.Pro287Leu) rs891642872 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_139027.6(ADAMTS13):c.3400+136T>A rs782166349 0.00001
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1275_1281dup (p.Thr428fs) rs1580098946
NM_000128.4(F11):c.1469T>C (p.Val490Ala)
NM_000128.4(F11):c.1837G>A (p.Glu613Lys)
NM_000128.4(F11):c.738del (p.Trp246fs)
NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs) rs1760997136
NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1857+1G>A rs2136102397
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000361.3(THBD):c.965G>A (p.Arg322Gln)
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.186C>G (p.Tyr62Ter)
NM_001001548.3(CD36):c.379_381dup (p.Ser127_Val128insSer)
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.638_639del (p.Lys213fs) rs780525946
NM_001001548.3(CD36):c.660_664del (p.Asn220fs) rs768699378
NM_001001548.3(CD36):c.660_669del (p.Asn220fs) rs778808650
NM_001001548.3(CD36):c.729C>A (p.Cys243Ter) rs149985988
NM_001001548.3(CD36):c.855del (p.Gly287fs)
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_001025356.3(ANO6):c.1308+2T>C rs2137575812
NM_001025356.3(ANO6):c.1914_1915del (p.Arg638fs) rs750168369
NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly) rs2018180805
NM_001987.5(ETV6):c.119C>T (p.Ala40Val)
NM_001987.5(ETV6):c.439A>T (p.Ile147Leu)
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
NM_003664.5(AP3B1):c.280-2A>G
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) rs1293477494
NM_019616.4(F7):c.442C>T (p.Arg148Cys)
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_022788.5(P2RY12):c.160C>T (p.Arg54Trp)
NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter)
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) rs1590263662
NM_024747.6(HPS6):c.1789del (p.Ala597fs)
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp) rs766916912
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) rs1309602954
NM_032383.5(HPS3):c.1509+1G>A rs746906314
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108
NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)
NM_139027.6(ADAMTS13):c.3401-40C>T
NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)
NM_139027.6(ADAMTS13):c.794G>C (p.Cys265Ser)
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)

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