ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 30 by Revvity Omics, Revvity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu) rs373576665 0.00010
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_173354.5(SIK1):c.1456G>A (p.Ala486Thr) rs1225191975 0.00001
NM_173354.5(SIK1):c.1433C>T (p.Ser478Phe)
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.2059G>T (p.Ala687Ser)
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.580G>A (p.Val194Ile) rs367965361

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