ClinVar Miner

List of variants reported as likely pathogenic for electroclinical syndrome by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_001134407.3(GRIN2A):c.2007+1del rs1596471698
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021

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