ClinVar Miner

List of variants studied for BENTA disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032415.7(CARD11):c.1143+10C>G rs1300600302 0.00001
NM_032415.7(CARD11):c.3086A>G (p.Lys1029Arg) rs1779213628
NM_032415.7(CARD11):c.377G>A (p.Gly126Asp) rs1423056320
NM_032415.7(CARD11):c.781C>T (p.Pro261Ser) rs1562492241

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