ClinVar Miner

List of variants studied for Epilepsy, familial adult myoclonic, 6

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014494.4(TNRC6A):c.2016C>T (p.Ser672=) rs13336754 0.25707
NM_014494.4(TNRC6A):c.4122+20A>G rs2059134 0.24619
NM_014494.4(TNRC6A):c.555T>A (p.Asn185Lys) rs11639856 0.18867
NM_014494.4(TNRC6A):c.1774G>A (p.Ala592Thr) rs6497759 0.18353
NM_014494.4(TNRC6A):c.2362C>T (p.Pro788Ser) rs3803716 0.18031
NM_014494.4(TNRC6A):c.136AAG[1] (p.Lys47del) rs2151408186
NM_014494.4(TNRC6A):c.339_350del (p.113_114PQ[1]) rs71156436
NM_014494.4(TNRC6A):c.3838-10G>T rs760665329
TNRC6A, 5-BP INS, TTTCA(n) REPEAT EXPANSION

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