ClinVar Miner

List of variants in gene AP3B2, CPEB1 studied for developmental and epileptic encephalopathy, 48

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001278512.2(AP3B2):c.3155+10C>T rs113056981 0.01057
NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr) rs147455569 0.00104
NM_001278512.2(AP3B2):c.3138G>A (p.Gly1046=) rs192273476 0.00053
NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln) rs529642370 0.00043
NM_001278512.2(AP3B2):c.1183-19T>G rs377729111 0.00036
NM_001278512.2(AP3B2):c.309G>A (p.Glu103=) rs142080998 0.00036
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) rs200983489 0.00021
NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp) rs188892600 0.00009
NM_001278512.2(AP3B2):c.2600C>T (p.Pro867Leu) rs374804698 0.00005
NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro) rs775126490 0.00003
NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln) rs572047686 0.00003
NM_001278512.2(AP3B2):c.1379-6C>G rs1030446693 0.00002
NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu) rs757342482 0.00002
NM_001278512.2(AP3B2):c.1853-18C>T rs202049467 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001278512.2(AP3B2):c.3125G>A (p.Arg1042His) rs779401895 0.00001
NM_001278512.2(AP3B2):c.360+7G>A rs1469176151 0.00001
NM_001278512.2(AP3B2):c.1110+1G>C rs1057519270
NM_001278512.2(AP3B2):c.1110+3G>C
NM_001278512.2(AP3B2):c.1110+5G>A
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) rs1057519269
NM_001278512.2(AP3B2):c.1489-245_1665+2029del
NM_001278512.2(AP3B2):c.1654A>T (p.Asn552Tyr)
NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter)
NM_001278512.2(AP3B2):c.1767C>A (p.Ser589=) rs776921804
NM_001278512.2(AP3B2):c.1837del (p.Glu613fs) rs1057519272
NM_001278512.2(AP3B2):c.1918G>T (p.Glu640Ter)
NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs)
NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter) rs775024756
NM_001278512.2(AP3B2):c.2261+2T>C rs1555464774
NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs) rs1057519271
NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser) rs2151427966
NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter)
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) rs1596183293
NM_001278512.2(AP3B2):c.445_448del (p.Ala149fs) rs1369308468
NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter) rs2151441655
NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs)
NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer) rs1481189891
NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter) rs1215589381

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