List of variants reported as pathogenic for electroclinical syndrome by New York Genome Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe)	rs2132106592
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)	rs2141872119
NM_001330260.2(SCN8A):c.2901+2T>C	rs2138863154
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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