ClinVar Miner

List of variants reported as pathogenic for blood coagulation disease by Baylor Genetics

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) rs121918450 0.00016
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000313.4(PROS1):c.77-1G>C rs759677822 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.728_729insA (p.Ser244fs) rs760577035 0.00001
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) rs1038392991
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000552.5(VWF):c.5235G>A (p.Trp1745Ter) rs267607352
NM_003664.5(AP3B1):c.1363+1G>A
NM_003664.5(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_032383.5(HPS3):c.1291del (p.Leu431fs)
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.1631del (p.Lys544fs)
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter)
NM_032383.5(HPS3):c.319C>T (p.Arg107Ter)
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)

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