ClinVar Miner

List of variants reported as pathogenic for blood coagulation disease by Mendelics

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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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
FIBRINOGEN PARIS 1 rs2066862 0.00546
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_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu) rs782799573 0.00011
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000132.4(F8):c.5291A>G (p.Gln1764Arg) rs374988541 0.00007
NM_000132.4(F8):c.121G>T (p.Gly41Cys) rs137852379 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000132.4(F8):c.6067G>A (p.Glu2023Lys) rs781886601 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000132.4(F8):c.4099A>T (p.Thr1367Ser) rs781812149 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.5806C>T (p.Arg1936Cys) rs781792644 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000132.4(F8):c.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5381T>A (p.Phe1794Tyr) rs782123880 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.5976G>A (p.Met1992Ile) rs782510443 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 0.00001
NM_000133.4(F9):c.890T>A (p.Ile297Asn) rs752084251 0.00001
NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro) rs755459581 0.00001
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
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.5703C>A (p.Ile1901=) rs782721473
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_139027.6(ADAMTS13):c.2863dup (p.Trp955fs) rs1588198044

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