ClinVar Miner

List of variants studied for blood coagulation disease by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys) rs145825553 0.00036
NM_000195.5(HPS1):c.1940+6G>A rs375927441 0.00030
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu) rs782799573 0.00011
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000312.4(PROC):c.752C>T (p.Ala251Val) rs568121876 0.00003
NM_001261826.3(AP3D1):c.3148G>A (p.Val1050Ile) rs755674952 0.00003
NM_172351.3(CD46):c.643G>A (p.Val215Met) rs535353049 0.00003
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 0.00002
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000132.4(F8):c.3986G>A (p.Arg1329His) rs782767347 0.00001
NM_000419.5(ITGA2B):c.1752+2T>C rs769156315 0.00001
NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser) rs61750608 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_001001548.3(CD36):c.610-2A>G rs745604189 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_019616.4(F7):c.844G>A (p.Ala282Thr) rs773627551 0.00001
NM_000064.4(C3):c.145G>T (p.Ala49Ser)
NM_000064.4(C3):c.3635C>T (p.Thr1212Ile)
NM_000128.4(F11):c.1135+4A>C
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1335C>G (p.Tyr445Ter)
NM_000128.4(F11):c.508A>T (p.Thr170Ser)
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000130.5(F5):c.1284A>T (p.Arg428Ser)
NM_000130.5(F5):c.1700G>A (p.Cys567Tyr)
NM_000130.5(F5):c.1772G>C (p.Gly591Ala)
NM_000130.5(F5):c.2722G>T (p.Glu908Ter)
NM_000130.5(F5):c.4281G>A (p.Met1427Ile)
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
NM_000132.4(F8):c.1655A>G (p.Tyr552Cys)
NM_000132.4(F8):c.1727A>T (p.Glu576Val)
NM_000132.4(F8):c.1904-2A>G
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2712del (p.Ile905fs)
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3637dup (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)
NM_000132.4(F8):c.5998+1G>T
NM_000132.4(F8):c.6574+5G>A
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000186.4(CFH):c.3472dup (p.Ser1158fs)
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile) rs2136134351
NM_000195.5(HPS1):c.499G>A (p.Ala167Thr)
NM_000195.5(HPS1):c.689G>A (p.Arg230His) rs377752969
NM_000204.5(CFI):c.1683A>C (p.Lys561Asn)
NM_000212.3(ITGB3):c.1118C>T (p.Ala373Val)
NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter) rs2143112940
NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs)
NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln)
NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter) rs2143099209
NM_000312.4(PROC):c.797G>A (p.Gly266Glu)
NM_000313.4(PROS1):c.1644G>A (p.Gln548=)
NM_000361.3(THBD):c.667A>C (p.Met223Leu)
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) rs2062417344
NM_000377.3(WAS):c.680G>A (p.Arg227His)
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.1639C>T (p.Arg547Cys)
NM_000419.5(ITGA2B):c.2320C>T (p.Arg774Trp)
NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)
NM_000419.5(ITGA2B):c.2819T>G (p.Leu940Arg)
NM_000419.5(ITGA2B):c.590A>G (p.Tyr197Cys) rs2143486113
NM_000504.4(F10):c.1094G>C (p.Gly365Ala)
NM_000506.5(F2):c.350G>A (p.Arg117Gln)
NM_000552.5(VWF):c.1433G>A (p.Gly478Asp)
NM_000552.5(VWF):c.212C>A (p.Ser71Ter) rs62643619
NM_000552.5(VWF):c.2442+5G>A
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4927G>A (p.Gly1643Ser) rs886042266
NM_000552.5(VWF):c.5051C>G (p.Pro1684Arg)
NM_000552.5(VWF):c.5223T>G (p.Ile1741Met)
NM_000552.5(VWF):c.953A>G (p.Asn318Ser)
NM_001001548.3(CD36):c.1126-1G>A
NM_001001548.3(CD36):c.1254+1G>C
NM_001001548.3(CD36):c.660_664del (p.Asn220fs) rs768699378
NM_001001548.3(CD36):c.971C>G (p.Ser324Ter) rs751804837
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs) rs774996406
NM_001710.6(CFB):c.2023G>A (p.Val675Met)
NM_001987.5(ETV6):c.446A>G (p.His149Arg)
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
NM_005957.5(MTHFR):c.1537T>A (p.Leu513Ile)
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)
NM_019616.4(F7):c.1058G>A (p.Arg353Gln)
NM_019616.4(F7):c.867_868insCA (p.Val290fs)
NM_019616.4(F7):c.895C>T (p.Leu299Phe)
NM_021870.3(FGG):c.1300G>T (p.Val434Phe)
NM_021871.4(FGA):c.473dup (p.Asn158fs)
NM_022081.6(HPS4):c.430G>T (p.Glu144Ter)
NM_032383.5(HPS3):c.35C>A (p.Ser12Ter) rs1466073004
NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)
NM_139027.6(ADAMTS13):c.845T>A (p.Val282Glu)
NM_145167.3(PIGM):c.401del (p.Asn134fs)

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