ClinVar Miner

List of variants in gene AP4M1 reported as likely pathogenic for obsolete AP4-related intellectual disability and spastic paraplegia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) rs1562912305 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126 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_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004722.4(AP4M1):c.105del (p.Lys36fs)
NM_004722.4(AP4M1):c.1138-1G>A rs2546963463
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) rs760907496
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 rs2546956864
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser) rs1554380391
NM_004722.4(AP4M1):c.930-1G>C rs973744863

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