ClinVar Miner

List of variants reported as pathogenic for BENTA disease

Included ClinVar conditions (4):
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Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_032415.7(CARD11):c.401A>G (p.Glu134Gly) rs387907351 0.00001
NM_032415.7(CARD11):c.676C>T (p.Gln226Ter) rs1404170214 0.00001
NC_000007.13:g.(?_2972149)_(2972240_?)del
NC_000007.13:g.(?_2998114)_(2998160_?)del
NC_000007.14:g.(?_2944192)_(2947807_?)del
NM_032415.7(CARD11):c.1030_1032del (p.Lys344del) rs2115070994
NM_032415.7(CARD11):c.140G>A (p.Arg47His) rs765680532
NM_032415.7(CARD11):c.146G>A (p.Cys49Tyr) rs794729673
NM_032415.7(CARD11):c.1663del (p.Arg555fs)
NM_032415.7(CARD11):c.1893C>G (p.Tyr631Ter)
NM_032415.7(CARD11):c.2062C>T (p.Arg688Ter) rs2115044716
NM_032415.7(CARD11):c.2437G>T (p.Glu813Ter) rs542412710
NM_032415.7(CARD11):c.2509C>T (p.Arg837Ter) rs1554271741
NM_032415.7(CARD11):c.2579del (p.Gly860fs)
NM_032415.7(CARD11):c.2650dup (p.Arg884fs) rs2115035271
NM_032415.7(CARD11):c.2671C>T (p.Arg891Ter)
NM_032415.7(CARD11):c.2683del (p.Leu895fs)
NM_032415.7(CARD11):c.349A>C (p.Thr117Pro)
NM_032415.7(CARD11):c.358+1G>A rs2115090359
NM_032415.7(CARD11):c.367G>A (p.Gly123Ser) rs387907352
NM_032415.7(CARD11):c.368G>A (p.Gly123Asp) rs571517554
NM_032415.7(CARD11):c.377G>A (p.Gly126Asp) rs1423056320
NM_032415.7(CARD11):c.793C>T (p.Gln265Ter) rs2115075086
NM_032415.7(CARD11):c.799del (p.Leu267fs) rs2115075051
NM_032415.7(CARD11):c.88C>T (p.Arg30Trp) rs145474800

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