List of variants reported as pathogenic for electroclinical syndrome by 3billion

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)	rs942355738
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)	rs1445802934
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)	rs1555491654
NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter)	rs936639741
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	rs267608643
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter)	rs867618155
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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