ClinVar Miner

List of variants studied for obsolete AP4-related intellectual disability and spastic paraplegia by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg) rs147135554 0.00095
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966 0.00066
NM_001128126.3(AP4S1):c.83G>A (p.Arg28His) rs201972703 0.00009
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp) rs550100552 0.00003
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00003
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter) rs767220480 0.00001
NM_001253852.3(AP4B1):c.671G>A (p.Arg224His) rs968023503 0.00001
NM_004722.4(AP4M1):c.26C>T (p.Ser9Phe) rs751068724 0.00001
NM_001253852.3(AP4B1):c.1466C>G (p.Ala489Gly) rs1667457042
NM_001253852.3(AP4B1):c.1499A>G (p.Tyr500Cys) rs1667452008
NM_001253852.3(AP4B1):c.1870C>G (p.Arg624Gly) rs368828060
NM_004722.4(AP4M1):c.1099C>T (p.Arg367Trp)
NM_004722.4(AP4M1):c.1195C>T (p.Pro399Ser) rs773269627
NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser) rs2063619601
NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln) rs1404968090
NM_007347.5(AP4E1):c.773A>G (p.Lys258Arg)

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