ClinVar Miner

List of variants studied for epilepsy, familial adult myoclonic, 5 by New York Genome Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.2196+5G>A rs747164379 0.00004
NM_005076.5(CNTN2):c.1297G>T (p.Gly433Trp) rs571201763
NM_005076.5(CNTN2):c.931T>C (p.Ser311Pro) rs1064794428

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