ClinVar Miner

List of variants in gene CD46 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
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.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.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.*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.118A>G (p.Thr40Ala) rs753924720 0.00001
NM_172351.3(CD46):c.586G>C (p.Gly196Arg) rs1656188708 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.*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.191G>T (p.Cys64Phe) rs1655633353
NM_172351.3(CD46):c.217C>T (p.Pro73Ser)
NM_172351.3(CD46):c.402T>G (p.Ile134Met) rs1553250568
NM_172351.3(CD46):c.476-6_476-5delinsG rs1656165500
NM_172351.3(CD46):c.548A>G (p.Tyr183Cys)
NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu) rs1656184011
NM_172351.3(CD46):c.737T>G (p.Phe246Cys)
NM_172351.3(CD46):c.857-124T>A rs886045837
NM_172351.3(CD46):c.944-1G>C
NM_172351.3(CD46):c.949C>G (p.Pro317Ala) rs886045838

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