List of variants in gene CNTN2 reported as benign for Epilepsy, familial adult myoclonic, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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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.433G>A (p.Ala145Thr)	rs2275697	0.17435
NM_005076.5(CNTN2):c.2431+20C>A	rs4951165	0.10123
NM_005076.5(CNTN2):c.3070G>A (p.Val1024Ile)	rs17416074	0.05322
NM_005076.5(CNTN2):c.297C>T (p.Asn99=)	rs9787172	0.05116
NM_005076.5(CNTN2):c.486A>C (p.Pro162=)	rs114050151	0.04775
NM_005076.5(CNTN2):c.1309C>G (p.Leu437Val)	rs79431021	0.03702
NM_005076.5(CNTN2):c.391+12G>A	rs16855012	0.01337
NM_005076.5(CNTN2):c.178G>A (p.Ala60Thr)	rs12076297	0.01264
NM_005076.5(CNTN2):c.1516C>A (p.Arg506=)	rs114903768	0.01070
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp)	rs41264871	0.00788
NM_005076.5(CNTN2):c.947C>T (p.Thr316Ile)	rs139732336	0.00468
NM_005076.5(CNTN2):c.2583G>A (p.Ala861=)	rs115143667	0.00374
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=)	rs145911280	0.00202
NM_005076.5(CNTN2):c.105C>T (p.Phe35=)	rs147074435	0.00182
NM_005076.5(CNTN2):c.1896C>T (p.Phe632=)	rs145918837	0.00178
NM_005076.5(CNTN2):c.2545-12C>T	rs201687043	0.00175
NM_005076.5(CNTN2):c.223A>G (p.Met75Val)	rs144767577	0.00047
NM_005076.5(CNTN2):c.63C>T (p.Ser21=)	rs149630443	0.00045
NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp)	rs149564430	0.00034
NM_005076.5(CNTN2):c.2469G>A (p.Gly823=)	rs138090348	0.00031
NM_005076.5(CNTN2):c.2125+8T>A	rs572060537	0.00027
NM_005076.5(CNTN2):c.391+13G>A	rs200725113	0.00017
NM_005076.5(CNTN2):c.1969C>T (p.Arg657Trp)	rs2305276
NM_005076.5(CNTN2):c.2196+42C>T	rs2305275
NM_005076.5(CNTN2):c.487+18del
NM_005076.5(CNTN2):c.697+18G>T	rs872379
NM_005076.5(CNTN2):c.797+16dup	rs5780262

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