ClinVar Miner

List of variants in gene DAG1 reported as pathogenic for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_004393.6(DAG1):c.220G>A (p.Val74Ile) rs189360006 0.00004
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter) rs1334656238
NM_004393.6(DAG1):c.285+1G>A rs2050744878
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter) rs2051320206
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter) rs2131107
NM_004393.6(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004393.6(DAG1):c.743del (p.Ala248fs) rs869320680

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