ClinVar Miner

List of variants reported as pathogenic for blood coagulation disease by 3billion, Medical Genetics

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000212.3(ITGB3):c.777+1G>A rs745766760 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs) rs2113123881
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.3300dup (p.Glu1101fs)
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)
NM_000132.4(F8):c.6115+2T>C
NM_000132.4(F8):c.755_756del (p.Thr252fs)
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.128G>A (p.Arg43Gln) rs1275708479
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000212.3(ITGB3):c.615-1G>A
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.21_22del (p.Leu8fs) rs2143507418
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.6599-5_6610del
NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)
NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856

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