ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 4

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Total variants: 44
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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.299G>A (p.Arg100Gln) rs374269726 0.00004
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile) rs1046891783 0.00001
NM_001032221.6(STXBP1):c.1360-7C>T rs895077278 0.00001
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met) rs762251880 0.00001
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His) rs749244650 0.00001
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn) rs746172968 0.00001
NM_001032221.6(STXBP1):c.1008G>C (p.Gln336His)
NM_001032221.6(STXBP1):c.1045C>G (p.His349Asp)
NM_001032221.6(STXBP1):c.1088A>T (p.Asp363Val)
NM_001032221.6(STXBP1):c.10A>G (p.Ile4Val)
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_001032221.6(STXBP1):c.1171G>A (p.Val391Ile)
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001032221.6(STXBP1):c.1295T>A (p.Ile432Lys) rs1841768122
NM_001032221.6(STXBP1):c.130TGC[1] (p.Cys45del) rs2132444621
NM_001032221.6(STXBP1):c.1337T>C (p.Leu446Pro)
NM_001032221.6(STXBP1):c.1359+5G>A rs2131513670
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe) rs1554778810
NM_001032221.6(STXBP1):c.1634T>G (p.Val545Gly)
NM_001032221.6(STXBP1):c.1640T>C (p.Leu547Pro)
NM_001032221.6(STXBP1):c.1658C>A (p.Ala553Asp)
NM_001032221.6(STXBP1):c.16C>T (p.Leu6Phe)
NM_001032221.6(STXBP1):c.170T>C (p.Ile57Thr) rs2132460702
NM_001032221.6(STXBP1):c.226C>G (p.Leu76Val)
NM_001032221.6(STXBP1):c.2T>A (p.Met1Lys)
NM_001032221.6(STXBP1):c.305C>T (p.Ala102Val) rs1840974440
NM_001032221.6(STXBP1):c.38-300C>T rs2132435278
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp) rs1588309392
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe) rs1211863124
NM_001032221.6(STXBP1):c.526A>T (p.Ile176Phe) rs2131462854
NM_001032221.6(STXBP1):c.530C>T (p.Ala177Val)
NM_001032221.6(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_001032221.6(STXBP1):c.553G>A (p.Glu185Lys)
NM_001032221.6(STXBP1):c.56T>C (p.Ile19Thr)
NM_001032221.6(STXBP1):c.576G>A (p.Arg192=) rs752943575
NM_001032221.6(STXBP1):c.649C>T (p.Pro217Ser)
NM_001032221.6(STXBP1):c.679C>T (p.Arg227Cys)
NM_001032221.6(STXBP1):c.698T>C (p.Leu233Pro) rs1588319482
NM_001032221.6(STXBP1):c.714C>A (p.Asp238Glu) rs587784456
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile) rs1057524795
NM_001032221.6(STXBP1):c.748C>A (p.Gln250Lys)
NM_003165.6(STXBP1):c.1711C>A (p.His571Asn)

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