ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_000744.7(CHRNA4):c.1758+14A>G rs3827020 0.19437
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_001242896.3(DEPDC5):c.3696+10C>A rs755463750

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