ClinVar Miner

List of variants in gene CD46 studied for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_172351.3(CD46):c.*897T>C rs7144 0.40706
NM_172351.3(CD46):c.*1875T>G rs1237 0.04298
NM_172351.3(CD46):c.*1435T>C rs14374 0.03161
NM_172351.3(CD46):c.1083-10C>T rs41317997 0.02234
NM_172351.3(CD46):c.*503A>G rs2724390 0.02021
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_172351.3(CD46):c.*918G>A rs6664092 0.01233
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_172351.3(CD46):c.453C>T (p.Ser151=) rs145041158 0.00408
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_172351.3(CD46):c.861G>A (p.Ser287=) rs17006843 0.00368
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
NM_172351.3(CD46):c.*1498G>T rs117431447 0.00133
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_172351.3(CD46):c.*1111C>G rs193023975 0.00049
NM_172351.3(CD46):c.198A>T (p.Lys66Asn) rs150429980 0.00033
NM_172351.3(CD46):c.276C>T (p.Asp92=) rs148383499 0.00026
NM_172351.3(CD46):c.*1641A>G rs886045843 0.00013
NM_172351.3(CD46):c.*517T>A rs539666226 0.00013
NM_172351.3(CD46):c.*1614G>A rs533116649 0.00009
NM_172351.3(CD46):c.261A>G (p.Leu87=) rs115385712 0.00008
NM_172351.3(CD46):c.887C>T (p.Ala296Val) rs753859532 0.00008
NM_172351.3(CD46):c.*968T>A rs768037862 0.00006
NM_172351.3(CD46):c.574G>C (p.Asp192His) rs368371683 0.00006
NM_172351.3(CD46):c.*1665G>A rs886045845 0.00005
NM_172351.3(CD46):c.*52G>A rs373138507 0.00004
NM_172351.3(CD46):c.245G>A (p.Arg82Gln) rs761000846 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_172351.3(CD46):c.293C>T (p.Thr98Ile) rs116800126 0.00004
NM_172351.3(CD46):c.*1265T>C rs753496695 0.00003
NM_172351.3(CD46):c.*180T>C rs886045840 0.00003
NM_172351.3(CD46):c.*614T>C rs561506830 0.00003
NM_172351.3(CD46):c.1104C>T (p.Thr368=) rs764242699 0.00003
NM_172351.3(CD46):c.643G>A (p.Val215Met) rs535353049 0.00003
NM_172351.3(CD46):c.*1211C>T rs1248620643 0.00002
NM_172351.3(CD46):c.*672A>T rs1430844015 0.00002
NM_172351.3(CD46):c.-127A>G rs1023894625 0.00002
NM_172351.3(CD46):c.535G>C (p.Glu179Gln) rs779174212 0.00002
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp) rs202071781 0.00002
NM_172351.3(CD46):c.*1146G>C rs914566029 0.00001
NM_172351.3(CD46):c.*1613C>T rs908893859 0.00001
NM_172351.3(CD46):c.*1888C>T rs886045846 0.00001
NM_172351.3(CD46):c.*1963C>T rs886045847 0.00001
NM_172351.3(CD46):c.*920A>G rs886045841 0.00001
NM_172351.3(CD46):c.1018+7A>G rs771467005 0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) rs121909591 0.00001
NM_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720 0.00001
NM_172351.3(CD46):c.175C>T (p.Arg59Ter) rs121909590 0.00001
NM_172351.3(CD46):c.287-2A>G rs759813089 0.00001
NM_172351.3(CD46):c.586G>C (p.Gly196Arg) rs1656188708 0.00001
NM_172351.3(CD46):c.718T>C (p.Ser240Pro) rs121909589 0.00001
NM_172351.3(CD46):c.820_821del (p.Ser274fs) rs1191117776 0.00001
NM_172351.3(CD46):c.857-185T>C rs376519984 0.00001
NM_172351.3(CD46):c.860C>T (p.Ser287Leu) rs751860518 0.00001
NM_172351.3(CD46):c.901+9A>G rs370112627 0.00001
NM_172351.3(CD46):c.98-1G>C rs1441937053 0.00001
NM_172351.3(CD46):c.*1099A>G rs886045842
NM_172351.3(CD46):c.*1272C>T rs1660101231
NM_172351.3(CD46):c.*1418T>C rs1660116649
NM_172351.3(CD46):c.*1659A>G rs886045844
NM_172351.3(CD46):c.*1865G>C rs1660164008
NM_172351.3(CD46):c.*31A>G rs886045839
NM_172351.3(CD46):c.*467T>C rs953478028
NM_172351.3(CD46):c.*518A>G rs867789788
NM_172351.3(CD46):c.101C>T (p.Ala34Val) rs1571578126
NM_172351.3(CD46):c.1082+13A>T rs1175018634
NM_172351.3(CD46):c.1083-3C>G
NM_172351.3(CD46):c.1090C>T (p.Leu364=) rs1483201583
NM_172351.3(CD46):c.126_127del (p.Glu42fs)
NM_172351.3(CD46):c.191G>T (p.Cys64Phe) rs1655633353
NM_172351.3(CD46):c.217C>T (p.Pro73Ser)
NM_172351.3(CD46):c.286+27del rs371729129
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856
NM_172351.3(CD46):c.351C>G (p.Tyr117Ter)
NM_172351.3(CD46):c.404del (p.Gly135fs) rs1571588257
NM_172351.3(CD46):c.476-1G>A rs1441390681
NM_172351.3(CD46):c.476-6_476-5delinsG rs1656165500
NM_172351.3(CD46):c.518A>G (p.His173Arg)
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_172351.3(CD46):c.548A>G (p.Tyr183Cys)
NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu) rs1656184011
NM_172351.3(CD46):c.559G>C (p.Val187Leu)
NM_172351.3(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_172351.3(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.735del (p.Lys245fs)
NM_172351.3(CD46):c.737T>G (p.Phe246Cys)
NM_172351.3(CD46):c.776del (p.Gly259fs) rs886039868
NM_172351.3(CD46):c.800_801del (p.Thr267fs) rs1558056827
NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del) rs1255421232
NM_172351.3(CD46):c.828G>A (p.Trp276Ter) rs1571617647
NM_172351.3(CD46):c.857-124T>A rs886045837
NM_172351.3(CD46):c.857-1G>A
NM_172351.3(CD46):c.907del (p.Arg303fs)
NM_172351.3(CD46):c.944-1G>C
NM_172351.3(CD46):c.949C>G (p.Pro317Ala) rs886045838

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