ClinVar Miner

List of variants in gene PQBP1 studied for syndromic intellectual disability

Included ClinVar conditions (203):
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) rs149688357 0.00011
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) rs139730174 0.00005
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630 0.00005
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp) rs782792216 0.00004
NM_001032382.2(PQBP1):c.*3C>T rs781944808 0.00003
NM_001032382.2(PQBP1):c.*8G>A rs376272913 0.00003
NM_001032382.2(PQBP1):c.488G>A (p.Arg163His) rs782686522 0.00002
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln) rs1249414837 0.00002
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) rs143156492 0.00001
NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp) rs781986555 0.00001
NM_001032382.2(PQBP1):c.642-9C>A rs782015028 0.00001
NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln) rs782596874 0.00001
NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs) rs2147468376
NM_001032382.2(PQBP1):c.180-306G>A rs2063414930
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_001032382.2(PQBP1):c.233C>A (p.Pro78Gln)
NM_001032382.2(PQBP1):c.292+1G>A rs2147472456
NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp) rs1222724041
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp) rs28372358
NM_001032382.2(PQBP1):c.376_377del (p.Arg126fs)
NM_001032382.2(PQBP1):c.424del (p.Arg142fs)
NM_001032382.2(PQBP1):c.431G>A (p.Arg144His)
NM_001032382.2(PQBP1):c.457_459del (p.Arg153del)
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs) rs606231193
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp) rs200715521
NM_001032382.2(PQBP1):c.488G>T (p.Arg163Leu)
NM_001032382.2(PQBP1):c.530G>A (p.Arg177His) rs1047322213
NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs) rs2147475642
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs) rs1602332039
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter) rs2063444025
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_001032382.2(PQBP1):c.643G>C (p.Gly215Arg) rs1557041816
NM_001032382.2(PQBP1):c.721del (p.Gln241fs)
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001032382.2(PQBP1):c.743C>G (p.Pro248Arg) rs2147479387
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu) rs1569510706

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