ClinVar Miner

List of variants reported as uncertain significance for BENTA disease by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP
NC_000007.13:g.(?_2946252)_(2998160_?)dup
NM_032415.6(CARD11):c.1055C>T (p.Ser352Leu)
NM_032415.6(CARD11):c.1130G>A (p.Arg377Gln)
NM_032415.6(CARD11):c.1202A>T (p.Asp401Val) rs1562490891
NM_032415.6(CARD11):c.1223G>A (p.Arg408His)
NM_032415.6(CARD11):c.1285G>A (p.Val429Ile)
NM_032415.6(CARD11):c.1316C>T (p.Ser439Phe)
NM_032415.6(CARD11):c.1342-3C>T
NM_032415.6(CARD11):c.1400C>T (p.Pro467Leu)
NM_032415.6(CARD11):c.140G>A (p.Arg47His) rs765680532
NM_032415.6(CARD11):c.1460G>A (p.Ser487Asn)
NM_032415.6(CARD11):c.150G>C (p.Lys50Asn) rs1282104067
NM_032415.6(CARD11):c.1535C>G (p.Ser512Cys) rs1562488034
NM_032415.6(CARD11):c.1658C>A (p.Pro553His)
NM_032415.6(CARD11):c.1670G>A (p.Arg557His)
NM_032415.6(CARD11):c.1752C>T (p.Arg584=)
NM_032415.6(CARD11):c.1782C>T (p.Gly594=) rs1463082614
NM_032415.6(CARD11):c.179T>A (p.Val60Glu)
NM_032415.6(CARD11):c.1807+3A>G rs41368548
NM_032415.6(CARD11):c.1807+5G>A
NM_032415.6(CARD11):c.1808-9C>A rs375872191
NM_032415.6(CARD11):c.1810G>A (p.Asp604Asn) rs1562484010
NM_032415.6(CARD11):c.1834G>A (p.Gly612Arg)
NM_032415.6(CARD11):c.191C>G (p.Pro64Arg)
NM_032415.6(CARD11):c.193A>G (p.Met65Val) rs1554276629
NM_032415.6(CARD11):c.1975G>A (p.Val659Met) rs78443994
NM_032415.6(CARD11):c.1984C>A (p.Pro662Thr) rs141482196
NM_032415.6(CARD11):c.2008A>T (p.Thr670Ser)
NM_032415.6(CARD11):c.2113G>A (p.Gly705Ser)
NM_032415.6(CARD11):c.2119C>T (p.Arg707Cys) rs143049136
NM_032415.6(CARD11):c.2236C>T (p.Pro746Ser)
NM_032415.6(CARD11):c.2449G>A (p.Ala817Thr)
NM_032415.6(CARD11):c.2553C>G (p.His851Gln) rs1562480665
NM_032415.6(CARD11):c.2621C>T (p.Pro874Leu) rs1175860108
NM_032415.6(CARD11):c.2641A>G (p.Ser881Gly) rs140097633
NM_032415.6(CARD11):c.2735G>A (p.Arg912Gln)
NM_032415.6(CARD11):c.2780T>C (p.Leu927Pro)
NM_032415.6(CARD11):c.2794C>T (p.Arg932Trp)
NM_032415.6(CARD11):c.2801C>T (p.Ser934Leu) rs775400791
NM_032415.6(CARD11):c.2875A>G (p.Ser959Gly)
NM_032415.6(CARD11):c.3057G>T (p.Lys1019Asn)
NM_032415.6(CARD11):c.3063G>C (p.Glu1021Asp) rs375727923
NM_032415.6(CARD11):c.3095A>G (p.Asn1032Ser) rs759214987
NM_032415.6(CARD11):c.3101T>A (p.Phe1034Tyr) rs1178617871
NM_032415.6(CARD11):c.3107G>A (p.Cys1036Tyr) rs1562476878
NM_032415.6(CARD11):c.3139G>A (p.Ala1047Thr) rs146334064
NM_032415.6(CARD11):c.3145-3C>T rs200456391
NM_032415.6(CARD11):c.3205A>G (p.Ile1069Val)
NM_032415.6(CARD11):c.3260+5G>A
NM_032415.6(CARD11):c.3303C>T (p.Arg1101=) rs764369378
NM_032415.6(CARD11):c.3398G>A (p.Arg1133His)
NM_032415.6(CARD11):c.3400G>A (p.Val1134Ile)
NM_032415.6(CARD11):c.3431G>A (p.Arg1144His)
NM_032415.6(CARD11):c.388T>A (p.Phe130Ile) rs1554276147
NM_032415.6(CARD11):c.392T>G (p.Leu131Arg) rs1562494873
NM_032415.6(CARD11):c.3G>C (p.Met1Ile)
NM_032415.6(CARD11):c.427A>T (p.Lys143Ter) rs1562494844
NM_032415.6(CARD11):c.430G>A (p.Ala144Thr) rs1267789041
NM_032415.6(CARD11):c.491A>C (p.Lys164Thr) rs1562494757
NM_032415.6(CARD11):c.50A>G (p.Asp17Gly)
NM_032415.6(CARD11):c.518_535del (p.Leu173_Glu178del)
NM_032415.6(CARD11):c.572A>G (p.Asn191Ser) rs147264763
NM_032415.6(CARD11):c.701A>C (p.His234Pro)
NM_032415.6(CARD11):c.808G>C (p.Glu270Gln)
NM_032415.6(CARD11):c.812G>T (p.Arg271Leu)
NM_032415.6(CARD11):c.88C>T (p.Arg30Trp) rs145474800
NM_032415.6(CARD11):c.89G>A (p.Arg30Gln) rs1554276653
NM_032415.6(CARD11):c.945C>G (p.Asp315Glu) rs149430714
NM_032415.6(CARD11):c.975C>A (p.Asn325Lys)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.