List of variants studied for Developmental and epileptic encephalopathy, 30 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_173354.5(SIK1):c.1463G>T (p.Cys488Phe)	rs769962713
NM_173354.5(SIK1):c.1658A>C (p.Gln553Pro)
NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser)	rs772047499
NM_173354.5(SIK1):c.2099C>T (p.Thr700Ile)	rs2516963883
NM_173354.5(SIK1):c.2117T>A (p.Leu706His)	rs2516963864
NM_173354.5(SIK1):c.2290G>C (p.Gly764Arg)
NM_173354.5(SIK1):c.2336T>A (p.Phe779Tyr)

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