ClinVar Miner

List of variants in gene PDX1 studied for Maturity-onset diabetes of the young type 4

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Total variants: 23
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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 0.00939
NM_000209.4(PDX1):c.-18C>T rs193922351 0.00495
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00319
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) rs936474667 0.00010
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp) rs753249965 0.00003
NM_000209.4(PDX1):c.318G>T (p.Pro106=) rs193922354 0.00001
NM_000209.4(PDX1):c.735dup (p.Gly246fs) rs1566025744 0.00001
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000209.4(PDX1):c.-50CTCCCGG[5] rs193922352
NM_000209.4(PDX1):c.178G>T (p.Gly60Cys)
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.282C>G (p.His94Gln) rs2137502663
NM_000209.4(PDX1):c.363G>T (p.Trp121Cys) rs2500200525
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) rs193922355
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) rs193922356
NM_000209.4(PDX1):c.593G>T (p.Arg198Leu) rs1957810066
NM_000209.4(PDX1):c.651del (p.Gly218fs) rs776610329
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.769C>T (p.Arg257Ter) rs1236618998
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098

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