ClinVar Miner

List of variants studied for electroclinical syndrome by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu) rs2131682815
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp) rs2042448930

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