ClinVar Miner

List of variants reported as likely pathogenic for obsolete AP4-related intellectual disability and spastic paraplegia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys) rs200276550 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_001128126.3(AP4S1):c.138+2T>G rs377679827 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter) rs767220480 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004722.4(AP4M1):c.142del (p.Val48fs) rs764326593 0.00001
NM_004722.4(AP4M1):c.463-2A>T rs750783717 0.00001
NM_004722.4(AP4M1):c.607-2A>G rs755533568 0.00001
NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter) rs2064899680 0.00001
NM_001128126.3(AP4S1):c.295-1G>A rs2139098086
NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)
NM_001253852.3(AP4B1):c.1106_1114+8del
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs) rs1667419336
NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)
NM_001253852.3(AP4B1):c.338+5G>A rs1019204290
NM_004722.4(AP4M1):c.1138-1G>A
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) rs760907496
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.203del (p.Val68fs) rs1584507780
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004722.4(AP4M1):c.498del (p.Ser167fs) rs766513025
NM_004722.4(AP4M1):c.58+1_58+2del rs1796054104
NM_004722.4(AP4M1):c.58+2T>G rs1554377262
NM_004722.4(AP4M1):c.607-2_607-1del
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser) rs1554380391
NM_004722.4(AP4M1):c.930-1G>C
NM_007347.5(AP4E1):c.1317-2A>C rs1567230528
NM_007347.5(AP4E1):c.1558dup (p.Glu520fs)

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