ClinVar Miner

List of variants studied for Epilepsy, familial adult myoclonic, 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.391+12G>A rs16855012 0.01337
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp) rs41264871 0.00788
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=) rs145911280 0.00202
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_005076.5(CNTN2):c.1695G>A (p.Val565=) rs148801784 0.00066
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_005076.5(CNTN2):c.2844+11A>C rs377297728 0.00019
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln) rs373583840 0.00005

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