ClinVar Miner

List of variants studied for coagulation protein disease by Mendelics

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000132.4(F8):c.266-19G>A rs28370201 0.00623
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_019616.4(F7):c.533T>G (p.Ile178Ser) rs141219108 0.00205
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
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_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00036
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000132.4(F8):c.5024A>G (p.Gln1675Arg) rs782280813 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000132.4(F8):c.5012G>A (p.Arg1671His) rs782166477 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000133.4(F9):c.109G>A (p.Ala37Thr) rs367569299 0.00001
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.5793G>C (p.Gln1931His) rs574811308
NM_012151.4(F8A1):c.1097C>G (p.Pro366Arg) rs1603432445

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