ClinVar Miner

List of variants studied for obsolete AP4-related intellectual disability and spastic paraplegia by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter) rs1796279189
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249

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