ClinVar Miner

List of variants in gene PDX1 reported as benign by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 12
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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.663G>A (p.Ala221=) rs754867917 0.00003
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098

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