ClinVar Miner

List of variants reported as benign for Epilepsy, familial adult myoclonic, 5 by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu)	rs2229866	0.36917
NM_005076.5(CNTN2):c.2628C>T (p.Ser876=)	rs2229868	0.29618
NM_005076.5(CNTN2):c.2196+42C>T	rs2305275

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