ClinVar Miner

List of variants reported as uncertain significance for coagulation protein disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln) rs200586078 0.00127
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_019616.4(F7):c.1267G>A (p.Glu423Lys) rs3093248 0.00113
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser) rs151129435 0.00057
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser) rs145180358 0.00053
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000133.4(F9):c.*293C>T rs747670394 0.00048
NM_000301.5(PLG):c.514A>G (p.Arg172Gly) rs145535174 0.00039
NM_000552.5(VWF):c.7619T>C (p.Val2540Ala) rs150778949 0.00038
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_000361.3(THBD):c.302G>C (p.Arg101Pro) rs546519295 0.00025
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) rs202074006 0.00022
NM_000361.3(THBD):c.866A>T (p.Asn289Ile) rs143748797 0.00021
NM_000301.5(PLG):c.317G>C (p.Gly106Ala) rs778599053 0.00016
NM_000552.5(VWF):c.3365C>T (p.Thr1122Met) rs183119284 0.00011
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His) rs570515282 0.00010
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) rs764647453 0.00010
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln) rs368774068 0.00010
NM_000301.5(PLG):c.505C>A (p.Pro169Thr) rs143256245 0.00009
NM_000301.5(PLG):c.115A>C (p.Lys39Gln) rs138353396 0.00008
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_000301.5(PLG):c.669-3C>G rs368764348 0.00007
NM_000301.5(PLG):c.646G>A (p.Ala216Thr) rs374234922 0.00006
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala) rs139348729 0.00005
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly) rs373741115 0.00005
NM_000552.5(VWF):c.1205G>A (p.Arg402Lys) rs779082753 0.00005
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000301.5(PLG):c.368C>T (p.Thr123Ile) rs370856655 0.00004
NM_000361.3(THBD):c.277C>A (p.Pro93Thr) rs754342536 0.00004
NM_000361.3(THBD):c.289G>A (p.Gly97Ser) rs1239586434 0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln) rs760992799 0.00004
NM_000301.5(PLG):c.1394C>T (p.Pro465Leu) rs374995543 0.00003
NM_000361.3(THBD):c.116A>T (p.Tyr39Phe) rs776866172 0.00003
NM_000361.3(THBD):c.1614C>A (p.His538Gln) rs1436540579 0.00003
NM_000128.4(F11):c.325+5G>T rs372102736 0.00002
NM_000301.5(PLG):c.17T>C (p.Val6Ala) rs764121149 0.00002
NM_000361.3(THBD):c.1678G>C (p.Glu560Gln) rs201487514 0.00002
NM_000361.3(THBD):c.415G>T (p.Ala139Ser) rs982068192 0.00002
NM_021871.4(FGA):c.8C>T (p.Ser3Phe) rs771156473 0.00002
NM_000132.4(F8):c.2732A>G (p.Asp911Gly) rs782671808 0.00001
NM_000361.3(THBD):c.119C>T (p.Pro40Leu) rs766710327 0.00001
NM_000361.3(THBD):c.1319C>T (p.Thr440Met) rs1438620913 0.00001
NM_000361.3(THBD):c.1499C>T (p.Thr500Met) rs753344243 0.00001
NM_000361.3(THBD):c.1519C>T (p.Pro507Ser) rs775671453 0.00001
NM_000361.3(THBD):c.1546G>C (p.Gly516Arg) rs138861385 0.00001
NM_000361.3(THBD):c.236G>C (p.Gly79Ala) rs1800577 0.00001
NM_000361.3(THBD):c.247C>G (p.Arg83Gly) rs748313651 0.00001
NM_000361.3(THBD):c.77G>C (p.Gly26Ala) rs757422951 0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153 0.00001
NM_000301.5(PLG):c.1329C>A (p.Ser443Arg) rs756670030
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000301.5(PLG):c.266G>C (p.Arg89Thr) rs143079629
NM_000301.5(PLG):c.466G>A (p.Asp156Asn) rs756533019
NM_000301.5(PLG):c.745G>A (p.Asp249Asn) rs532027310
NM_000301.5(PLG):c.814A>G (p.Thr272Ala) rs754598185
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu) rs376845574
NM_000361.3(THBD):c.180G>A (p.Met60Ile) rs2122673111
NM_000361.3(THBD):c.241G>A (p.Val81Ile) rs772288987
NM_000361.3(THBD):c.898C>T (p.Pro300Ser) rs199987510
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter) rs148824832
NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu) rs369450995
NM_000821.7(GGCX):c.1217G>A (p.Arg406His) rs139574592

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