ClinVar Miner

List of variants in gene PQBP1 reported as pathogenic for X-linked disease

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005710.2(PQBP1):c.451_452AG[5] (p.Glu154fs) rs606231193
NM_005710.2(PQBP1):c.463C>T (p.Arg155Ter)
NM_005710.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_005710.2(PQBP1):c.597_598AG[1] (p.Glu200fs)
NM_005710.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_144495.2(PQBP1):c.293-341AG[4] rs606231193
NM_144495.2(PQBP1):c.293-341AG[7] rs606231193

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