ClinVar Miner

List of variants studied for BENTA disease by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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HGVS dbSNP
NC_000007.13:g.(?_2946252)_(2998160_?)dup
NM_032415.6(CARD11):c.1008G>A (p.Leu336=) rs1554275179
NM_032415.6(CARD11):c.1055C>T (p.Ser352Leu)
NM_032415.6(CARD11):c.1101G>A (p.Thr367=) rs368714967
NM_032415.6(CARD11):c.1130G>A (p.Arg377Gln)
NM_032415.6(CARD11):c.1202A>T (p.Asp401Val) rs1562490891
NM_032415.6(CARD11):c.1212G>A (p.Arg404=) rs142108678
NM_032415.6(CARD11):c.1223G>A (p.Arg408His)
NM_032415.6(CARD11):c.1260G>A (p.Glu420=) rs112171353
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.1440G>A (p.Ser480=) rs41396348
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.1581C>A (p.His527Gln) rs74876622
NM_032415.6(CARD11):c.1590A>C (p.Glu530Asp) rs41515445
NM_032415.6(CARD11):c.1610G>C (p.Ser537Thr) rs148753096
NM_032415.6(CARD11):c.1630A>C (p.Ile544Leu) rs147687933
NM_032415.6(CARD11):c.1658C>A (p.Pro553His)
NM_032415.6(CARD11):c.1670G>A (p.Arg557His)
NM_032415.6(CARD11):c.1692C>T (p.Thr564=) rs752788421
NM_032415.6(CARD11):c.1695C>T (p.Ala565=) rs41454944
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.180G>T (p.Val60=) rs117016854
NM_032415.6(CARD11):c.1810G>A (p.Asp604Asn) rs1562484010
NM_032415.6(CARD11):c.1834G>A (p.Gly612Arg)
NM_032415.6(CARD11):c.1887T>C (p.Asp629=) rs150116627
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.2060C>T (p.Ala687Val) rs41493047
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.225G>C (p.Arg75=) rs10229368
NM_032415.6(CARD11):c.2270-4G>A rs371703131
NM_032415.6(CARD11):c.2449G>A (p.Ala817Thr)
NM_032415.6(CARD11):c.2479C>T (p.Leu827=) rs767482937
NM_032415.6(CARD11):c.2509C>T (p.Arg837Ter) rs1554271741
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.2670G>A (p.Ser890=) rs146545469
NM_032415.6(CARD11):c.2735G>A (p.Arg912Gln)
NM_032415.6(CARD11):c.2748C>T (p.Asn916=) rs61731201
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.2913C>T (p.Cys971=) rs61757651
NM_032415.6(CARD11):c.3019+6C>T rs199705831
NM_032415.6(CARD11):c.3019+7G>A rs184926618
NM_032415.6(CARD11):c.3019+9C>T rs200741645
NM_032415.6(CARD11):c.3025G>A (p.Val1009Ile) rs147381531
NM_032415.6(CARD11):c.3057G>T (p.Lys1019Asn)
NM_032415.6(CARD11):c.3063G>C (p.Glu1021Asp) rs375727923
NM_032415.6(CARD11):c.3090C>T (p.Asn1030=) rs112241277
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.3144+9G>A rs112606562
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.3399C>T (p.Arg1133=) rs117428786
NM_032415.6(CARD11):c.3400G>A (p.Val1134Ile)
NM_032415.6(CARD11):c.3431G>A (p.Arg1144His)
NM_032415.6(CARD11):c.3454G>A (p.Asp1152Asn) rs147422861
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)

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