List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 4 by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1359+1G>A	rs796053370
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.170-2A>G	rs1554776674
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	rs794727970
NM_001032221.6(STXBP1):c.902+1G>A	rs886041978

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