ClinVar Miner

List of variants in gene AP4E1 studied for obsolete AP4-related intellectual disability and spastic paraplegia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.1967-91A>G rs2306335 0.79763
NM_007347.5(AP4E1):c.542+59G>A rs2306332 0.60959
NM_007347.5(AP4E1):c.222+48_222+49insT rs3214932 0.57174
NM_007347.5(AP4E1):c.346+50G>C rs2663553 0.57162
NM_007347.5(AP4E1):c.222+18G>A rs1147129 0.56600
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_007347.5(AP4E1):c.1066+51T>C rs2291107 0.20641
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_007347.5(AP4E1):c.150+33A>G rs76674534 0.16669
NM_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile) rs75130619 0.01213
NM_007347.5(AP4E1):c.542+11T>G rs58882998 0.00762
NM_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile) rs142215198 0.00034
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) rs150743968 0.00005
NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter) rs2064899680 0.00001
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
NM_007347.5(AP4E1):c.1316+44_1316+54del rs144809125
NM_007347.5(AP4E1):c.1317-2A>C rs1567230528
NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs) rs2140861877
NM_007347.5(AP4E1):c.1429+1G>T
NM_007347.5(AP4E1):c.1558dup (p.Glu520fs)
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro) rs1176175925
NM_007347.5(AP4E1):c.3096-57dup rs3840015
NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser) rs2063619601
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr) rs2063738778
NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln) rs1404968090
NM_007347.5(AP4E1):c.542+5_542+8del rs2141147450
NM_007347.5(AP4E1):c.773A>G (p.Lys258Arg)
NM_007347.5(AP4E1):c.942_943+3delinsCC rs2141164878

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