ClinVar Miner

List of variants in gene PQBP1 studied for Renpenning syndrome

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Total variants: 15
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HGVS dbSNP
NM_005710.2(PQBP1):c.-214A>G rs1006576758
NM_005710.2(PQBP1):c.-87C>T rs150603792
NM_005710.2(PQBP1):c.180-3C>T rs741932
NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_005710.2(PQBP1):c.264G>A (p.Ser88=) rs398124212
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005710.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630
NM_005710.2(PQBP1):c.451_452AG[4] (p.Arg153fs) rs606231193
NM_005710.2(PQBP1):c.451_452AG[5] (p.Glu154fs) rs606231193
NM_005710.2(PQBP1):c.451_452AG[7] (p.Arg155fs) rs606231193
NM_005710.2(PQBP1):c.541C>T (p.Arg181Trp)
NM_005710.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
NM_005710.2(PQBP1):c.585C>T (p.Ser195=) rs149688357
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_005710.2(PQBP1):c.640dup (p.Arg214fs) rs606231196

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