ClinVar Miner

List of variants reported as likely pathogenic for electroclinical syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val) rs1555401942
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532

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