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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
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.*8G>A	rs376272913	0.00003
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln)	rs1249414837	0.00002
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.180-306G>A	rs2063414930
NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp)	rs1222724041
NM_001032382.2(PQBP1):c.431G>A (p.Arg144His)
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp)	rs200715521
NM_001032382.2(PQBP1):c.530G>A (p.Arg177His)	rs1047322213
NM_001032382.2(PQBP1):c.743C>G (p.Pro248Arg)	rs2147479387
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)	rs1569510706

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