ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 4 by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.1029+1G>C rs727504173
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.714C>A (p.Asp238Glu) rs587784456
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs) rs587784454
NM_001032221.6(STXBP1):c.87+2T>C rs1554775960

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