ClinVar Miner

List of variants in gene PDX1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000209.4(PDX1):c.217dup (p.Leu73fs) rs1445970498
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) rs193922355
NM_000209.4(PDX1):c.488A>G (p.Lys163Arg)
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) rs193922356

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