ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 30 by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) rs430552 0.73160
NM_173354.5(SIK1):c.625-39A>G rs2006112 0.32889
NM_173354.5(SIK1):c.749-45C>G rs657978 0.32441
NM_173354.5(SIK1):c.625-23T>C rs2006191 0.31560
NM_173354.5(SIK1):c.1246-36T>C rs2838302 0.09992
NM_173354.5(SIK1):c.274-28G>A rs59151119 0.09888
NM_173354.5(SIK1):c.337+35C>G rs57684950 0.09708
NM_173354.5(SIK1):c.156+15T>C rs56796001 0.09264
NM_173354.5(SIK1):c.749-49G>A rs117253106 0.06248
NM_173354.5(SIK1):c.748+17C>T rs75559179

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