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: 187
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HGVS dbSNP
NC_000007.13:g.(?_2946252)_(2998160_?)dup
NC_000007.14:g.(?_2906618)_(2917405_?)del
NC_000007.14:g.(?_2922614)_(2958526_?)dup
NC_000007.14:g.(?_2944192)_(2947807_?)del
NM_032415.6(CARD11):c.1008G>A (p.Leu336=) rs1554275179
NM_032415.6(CARD11):c.1017+3G>A rs371474461
NM_032415.6(CARD11):c.1055C>T (p.Ser352Leu) rs1583398561
NM_032415.6(CARD11):c.1101G>A (p.Thr367=) rs368714967
NM_032415.6(CARD11):c.1130G>A (p.Arg377Gln) rs992263343
NM_032415.6(CARD11):c.1186T>G (p.Cys396Gly)
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) rs79513324
NM_032415.6(CARD11):c.1227G>A (p.Glu409=) rs115457946
NM_032415.6(CARD11):c.125T>G (p.Leu42Arg)
NM_032415.6(CARD11):c.1260G>A (p.Glu420=) rs112171353
NM_032415.6(CARD11):c.1262T>C (p.Met421Thr) rs372864426
NM_032415.6(CARD11):c.1285G>A (p.Val429Ile) rs1298741148
NM_032415.6(CARD11):c.1316C>T (p.Ser439Phe) rs760856731
NM_032415.6(CARD11):c.1342-3C>T rs375111825
NM_032415.6(CARD11):c.1400C>T (p.Pro467Leu) rs1583394247
NM_032415.6(CARD11):c.140G>A (p.Arg47His) rs765680532
NM_032415.6(CARD11):c.1425C>T (p.Asp475=) rs370885250
NM_032415.6(CARD11):c.1440G>A (p.Ser480=) rs41396348
NM_032415.6(CARD11):c.1460G>A (p.Ser487Asn) rs1583394168
NM_032415.6(CARD11):c.1496G>A (p.Arg499Lys)
NM_032415.6(CARD11):c.150G>C (p.Lys50Asn) rs1282104067
NM_032415.6(CARD11):c.1519-7C>T rs370431421
NM_032415.6(CARD11):c.1535C>G (p.Ser512Cys) rs1562488034
NM_032415.6(CARD11):c.1558T>C (p.Ser520Pro) rs755350456
NM_032415.6(CARD11):c.155T>C (p.Ile52Thr)
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.1595C>T (p.Thr532Met) rs201780608
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) rs138608490
NM_032415.6(CARD11):c.1658C>T (p.Pro553Leu)
NM_032415.6(CARD11):c.1670G>A (p.Arg557His) rs1012368675
NM_032415.6(CARD11):c.1695C>T (p.Ala565=) rs41454944
NM_032415.6(CARD11):c.16C>A (p.Pro6Thr) rs191347765
NM_032415.6(CARD11):c.1710C>T (p.Asn570=) rs753114537
NM_032415.6(CARD11):c.173A>G (p.Asp58Gly)
NM_032415.6(CARD11):c.173A>T (p.Asp58Val)
NM_032415.6(CARD11):c.1741G>A (p.Ala581Thr) rs75403455
NM_032415.6(CARD11):c.1752C>T (p.Arg584=) rs1583385554
NM_032415.6(CARD11):c.1782C>T (p.Gly594=) rs1463082614
NM_032415.6(CARD11):c.179T>A (p.Val60Glu) rs1583410780
NM_032415.6(CARD11):c.1807+3A>G rs41368548
NM_032415.6(CARD11):c.1807+5G>A rs748165134
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.1812C>T (p.Asp604=) rs149270244
NM_032415.6(CARD11):c.182T>G (p.Leu61Arg)
NM_032415.6(CARD11):c.1834G>A (p.Gly612Arg) rs755710637
NM_032415.6(CARD11):c.1887T>C (p.Asp629=) rs150116627
NM_032415.6(CARD11):c.191C>G (p.Pro64Arg) rs1583410771
NM_032415.6(CARD11):c.1923G>A (p.Arg641=) rs41405944
NM_032415.6(CARD11):c.193A>G (p.Met65Val) rs1554276629
NM_032415.6(CARD11):c.1940+6C>G
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) rs369830451
NM_032415.6(CARD11):c.2060C>T (p.Ala687Val) rs41493047
NM_032415.6(CARD11):c.2061G>A (p.Ala687=) rs145745268
NM_032415.6(CARD11):c.2081C>T (p.Ser694Leu) rs3735133
NM_032415.6(CARD11):c.2102C>T (p.Ala701Val)
NM_032415.6(CARD11):c.2113G>A (p.Gly705Ser) rs146070546
NM_032415.6(CARD11):c.2119C>T (p.Arg707Cys) rs143049136
NM_032415.6(CARD11):c.2236C>T (p.Pro746Ser) rs941925891
NM_032415.6(CARD11):c.2244G>A (p.Thr748=) rs3735131
NM_032415.6(CARD11):c.225G>C (p.Arg75=) rs10229368
NM_032415.6(CARD11):c.2270-4G>A rs371703131
NM_032415.6(CARD11):c.2301C>T (p.Asp767=) rs144358235
NM_032415.6(CARD11):c.2436C>T (p.His812=) rs146943681
NM_032415.6(CARD11):c.2449G>A (p.Ala817Thr) rs376539147
NM_032415.6(CARD11):c.2451G>A (p.Ala817=) rs141131560
NM_032415.6(CARD11):c.2453G>A (p.Arg818Gln)
NM_032415.6(CARD11):c.2479C>T (p.Leu827=) rs767482937
NM_032415.6(CARD11):c.2480T>G (p.Leu827Arg)
NM_032415.6(CARD11):c.2499C>T (p.Pro833=) rs150171618
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.2662C>T (p.Arg888Cys)
NM_032415.6(CARD11):c.2670G>A (p.Ser890=) rs146545469
NM_032415.6(CARD11):c.2703+4A>G
NM_032415.6(CARD11):c.2718C>T (p.Ser906=) rs916415454
NM_032415.6(CARD11):c.2735G>A (p.Arg912Gln) rs368119340
NM_032415.6(CARD11):c.2748C>T (p.Asn916=) rs61731201
NM_032415.6(CARD11):c.2780T>C (p.Leu927Pro) rs934009845
NM_032415.6(CARD11):c.2794C>T (p.Arg932Trp) rs368431453
NM_032415.6(CARD11):c.2801C>T (p.Ser934Leu) rs775400791
NM_032415.6(CARD11):c.2856C>T (p.Ser952=) rs115741110
NM_032415.6(CARD11):c.2875A>G (p.Ser959Gly) rs1429376486
NM_032415.6(CARD11):c.2913C>G (p.Cys971Trp)
NM_032415.6(CARD11):c.2913C>T (p.Cys971=) rs61757651
NM_032415.6(CARD11):c.2946C>T (p.Thr982=) rs200612985
NM_032415.6(CARD11):c.2961G>A (p.Thr987=) rs368214396
NM_032415.6(CARD11):c.3019+6C>T rs199705831
NM_032415.6(CARD11):c.3019+7G>A rs184926618
NM_032415.6(CARD11):c.3019+8G>A rs754091988
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) rs899595121
NM_032415.6(CARD11):c.3059C>T (p.Thr1020Met) rs116583746
NM_032415.6(CARD11):c.3060G>A (p.Thr1020=) rs138682139
NM_032415.6(CARD11):c.3063G>C (p.Glu1021Asp) rs375727923
NM_032415.6(CARD11):c.3080G>A (p.Arg1027Gln)
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.3113C>T (p.Ala1038Val)
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.3175G>A (p.Gly1059Ser)
NM_032415.6(CARD11):c.3205A>G (p.Ile1069Val) rs1466729511
NM_032415.6(CARD11):c.3260+5G>A rs765125933
NM_032415.6(CARD11):c.3303C>T (p.Arg1101=) rs764369378
NM_032415.6(CARD11):c.3396C>T (p.Leu1132=) rs140481165
NM_032415.6(CARD11):c.3398G>A (p.Arg1133His) rs746125201
NM_032415.6(CARD11):c.3399C>T (p.Arg1133=) rs117428786
NM_032415.6(CARD11):c.3400G>A (p.Val1134Ile) rs759681668
NM_032415.6(CARD11):c.3410A>T (p.Asp1137Val)
NM_032415.6(CARD11):c.3431G>A (p.Arg1144His) rs573740263
NM_032415.6(CARD11):c.3454G>A (p.Asp1152Asn) rs147422861
NM_032415.6(CARD11):c.367G>A (p.Gly123Ser) rs387907352
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) rs746425765
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.490A>C (p.Lys164Gln)
NM_032415.6(CARD11):c.491A>C (p.Lys164Thr) rs1562494757
NM_032415.6(CARD11):c.50A>G (p.Asp17Gly) rs1053147582
NM_032415.6(CARD11):c.518_535del (p.Leu173_Glu178del) rs1583406626
NM_032415.6(CARD11):c.519G>A (p.Leu173=) rs41473147
NM_032415.6(CARD11):c.572A>G (p.Asn191Ser) rs147264763
NM_032415.6(CARD11):c.61G>A (p.Ala21Thr)
NM_032415.6(CARD11):c.7+3A>C
NM_032415.6(CARD11):c.701A>C (p.His234Pro) rs1583400914
NM_032415.6(CARD11):c.705G>A (p.Arg235=) rs111292123
NM_032415.6(CARD11):c.808G>C (p.Glu270Gln) rs1402074557
NM_032415.6(CARD11):c.812G>T (p.Arg271Leu) rs777590674
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.925C>T (p.Arg309Cys) rs370704955
NM_032415.6(CARD11):c.945C>G (p.Asp315Glu) rs149430714
NM_032415.6(CARD11):c.945C>T (p.Asp315=) rs149430714
NM_032415.6(CARD11):c.975C>A (p.Asn325Lys) rs761421227
NM_032415.7(CARD11):c.1090C>T (p.Arg364Cys)
NM_032415.7(CARD11):c.1250T>A (p.Met417Lys)
NM_032415.7(CARD11):c.1357C>G (p.Leu453Val)
NM_032415.7(CARD11):c.1519C>T (p.Leu507=)
NM_032415.7(CARD11):c.1618G>A (p.Gly540Arg)
NM_032415.7(CARD11):c.1656G>C (p.Gln552His)
NM_032415.7(CARD11):c.181C>T (p.Leu61Phe)
NM_032415.7(CARD11):c.1876G>A (p.Glu626Lys)
NM_032415.7(CARD11):c.2055C>T (p.Gly685=)
NM_032415.7(CARD11):c.214C>G (p.Arg72Gly)
NM_032415.7(CARD11):c.2198A>G (p.Lys733Arg)
NM_032415.7(CARD11):c.2276G>A (p.Arg759Gln)
NM_032415.7(CARD11):c.2377A>G (p.Met793Val)
NM_032415.7(CARD11):c.2446T>G (p.Cys816Gly)
NM_032415.7(CARD11):c.2450C>T (p.Ala817Val)
NM_032415.7(CARD11):c.2542C>T (p.Arg848Cys)
NM_032415.7(CARD11):c.2606G>A (p.Arg869Gln)
NM_032415.7(CARD11):c.2863G>A (p.Gly955Ser)
NM_032415.7(CARD11):c.2908T>C (p.Tyr970His)
NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys)
NM_032415.7(CARD11):c.2924G>A (p.Arg975Gln)
NM_032415.7(CARD11):c.2947G>A (p.Val983Met)
NM_032415.7(CARD11):c.3130G>T (p.Ala1044Ser)
NM_032415.7(CARD11):c.3198G>C (p.Lys1066Asn)
NM_032415.7(CARD11):c.3344G>A (p.Cys1115Tyr)
NM_032415.7(CARD11):c.3357G>A (p.Thr1119=)
NM_032415.7(CARD11):c.3374G>C (p.Trp1125Ser)
NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)
NM_032415.7(CARD11):c.3G>A (p.Met1Ile)
NM_032415.7(CARD11):c.416A>G (p.Gln139Arg)
NM_032415.7(CARD11):c.583G>C (p.Val195Leu)
NM_032415.7(CARD11):c.715A>G (p.Met239Val)
NM_032415.7(CARD11):c.937C>G (p.Leu313Val)

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