ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 4 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00318
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00150
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00079
NM_001032221.6(STXBP1):c.902+10C>T rs760108945 0.00002

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