List of variants studied for electroclinical syndrome by Pediatrics, MediClubGeorgia

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001271.4(CHD2):c.1934C>A (p.Thr645Lys)	rs2053619460
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
NM_001271.4(CHD2):c.2644GTC[1] (p.Val883del)
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)	rs1925264314
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	rs760270633

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