List of variants reported as pathogenic for developmental and epileptic encephalopathy by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)	rs2132444703
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001040142.2(SCN2A):c.2388+1G>A	rs1698674881
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro)	rs1856116625
NM_001326342.2(CELF2):c.1517G>A (p.Arg506His)	rs2132785456
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)	rs1064794764
NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter)	rs2146813259
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)	rs1407446171

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