ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy 98 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1547C>T (p.Ser516Phe)
NM_000702.4(ATP1A2):c.160C>A (p.Gln54Lys) rs2524849489
NM_000702.4(ATP1A2):c.2942+7G>C rs1453969483
NM_000702.4(ATP1A2):c.589G>T (p.Val197Phe) rs540087535

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