ClinVar Miner

Variants in gene PDX1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000209.4(PDX1):c.-18C>T rs193922351 0.00540
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598 0.00078
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr) rs143517122 0.00022
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.693C>T (p.Ser231=) rs200411304
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098

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