ClinVar Miner

List of variants reported as uncertain significance for coagulation protein disease by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_000552.5(VWF):c.1463C>G (p.Ala488Gly) rs144817575 0.00098
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.4146G>T (p.Leu1382=) rs140464171 0.00044
NM_000128.4(F11):c.1305-5C>T rs375998777 0.00032
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000132.4(F8):c.3980C>T (p.Thr1327Met) rs200520711 0.00009
NM_000128.4(F11):c.1328G>A (p.Arg443His) rs373212439 0.00006
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_000552.5(VWF):c.1514G>A (p.Arg505His) rs139830291 0.00004
NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu) rs777556669 0.00004
NM_000552.5(VWF):c.6421G>A (p.Val2141Ile) rs923531708 0.00003
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_000504.4(F10):c.535C>T (p.Arg179Cys) rs1277295882 0.00001
NM_000552.5(VWF):c.1001G>A (p.Gly334Glu) rs932134873 0.00001
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser) rs765163545 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3251G>A (p.Cys1084Tyr) rs759805079 0.00001
NM_000552.5(VWF):c.4360G>A (p.Val1454Ile) rs533417176 0.00001
NM_000552.5(VWF):c.5668G>A (p.Gly1890Arg) rs746837624 0.00001
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328 0.00001
NM_000128.4(F11):c.-2G>C rs1580057911
NM_000128.4(F11):c.1106A>G (p.Tyr369Cys) rs1580090672
NM_000128.4(F11):c.1137G>C (p.Glu379Asp) rs1580098240
NM_000128.4(F11):c.1192G>A (p.Glu398Lys) rs746475013
NM_000128.4(F11):c.1646A>G (p.Tyr549Cys) rs755529772
NM_000128.4(F11):c.1699G>A (p.Gly567Arg) rs1580108251
NM_000128.4(F11):c.1751A>T (p.Asn584Ile) rs773581347
NM_000128.4(F11):c.1772G>C (p.Gly591Ala) rs1580110270
NM_000128.4(F11):c.634G>A (p.Asp212Asn) rs1580080555
NM_000130.5(F5):c.1975G>A (p.Gly659Arg) rs759167620
NM_000130.5(F5):c.333C>A (p.Ser111Arg) rs1571598716
NM_000130.5(F5):c.358A>G (p.Ser120Gly) rs1571598694
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn) rs1571572228
NM_000130.5(F5):c.773T>C (p.Leu258Pro) rs975505802
NM_000132.4(F8):c.5164G>A (p.Val1722Met) rs1603433719
NM_000132.4(F8):c.926C>T (p.Pro309Leu) rs1603435401
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000301.5(PLG):c.1217C>A (p.Pro406Gln) rs1582940083
NM_000301.5(PLG):c.2278A>G (p.Ser760Gly) rs1582955692
NM_000301.5(PLG):c.950+4A>G rs1582937995
NM_000504.4(F10):c.1237G>A (p.Asp413Asn) rs1595099677
NM_000504.4(F10):c.1321G>A (p.Glu441Lys) rs1305872315
NM_000504.4(F10):c.241T>G (p.Trp81Gly) rs1595092916
NM_000504.4(F10):c.702G>C (p.Arg234Ser) rs1595096266
NM_000552.5(VWF):c.182T>C (p.Leu61Pro) rs1306914162
NM_000552.5(VWF):c.1841C>T (p.Ser614Phe) rs776987924
NM_000552.5(VWF):c.2299T>C (p.Cys767Arg) rs1591880825
NM_000552.5(VWF):c.2686-7T>G rs1591871882
NM_000552.5(VWF):c.2981G>A (p.Gly994Asp) rs1591867991
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.435C>G (p.Asn145Lys) rs1591924311
NM_000552.5(VWF):c.4622A>G (p.Gln1541Arg) rs1591862393
NM_000552.5(VWF):c.4727C>A (p.Thr1576Asn) rs1591862230
NM_000552.5(VWF):c.4834G>C (p.Ala1612Pro) rs1591862118
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.5849G>A (p.Cys1950Tyr) rs1591849732
NM_000552.5(VWF):c.6314C>T (p.Thr2105Ile) rs761604165
NM_000552.5(VWF):c.6538T>C (p.Tyr2180His) rs1591848338
NM_000552.5(VWF):c.6762C>G (p.Cys2254Trp) rs1232884671
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg) rs1591838774
NM_000552.5(VWF):c.814G>C (p.Ala272Pro) rs747799959
NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg) rs1591827147
NM_000552.5(VWF):c.8275A>G (p.Met2759Val) rs776211115
NM_000552.5(VWF):c.8307C>A (p.Asp2769Glu) rs1591826730
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.739+7_739+43del rs1309684522

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