ClinVar Miner

List of variants in gene PDX1 studied for Maturity onset diabetes mellitus in young

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Total variants: 30
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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.226G>A (p.Asp76Asn) rs137852783 0.00320
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.210G>T (p.Val70=) rs748725637 0.00016
NM_000209.4(PDX1):c.732C>G (p.Pro244=) rs777512281 0.00016
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) rs936474667 0.00010
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr)
NM_000209.4(PDX1):c.217del (p.Leu73fs)
NM_000209.4(PDX1):c.231C>T (p.Pro77=)
NM_000209.4(PDX1):c.234G>T (p.Ala78=)
NM_000209.4(PDX1):c.258C>T (p.Leu86=)
NM_000209.4(PDX1):c.288C>G (p.Pro96=)
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr)
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala)
NM_000209.4(PDX1):c.693C>G (p.Ser231=)
NM_000209.4(PDX1):c.708G>C (p.Leu236=)
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.816C>T (p.Ser272=)
NM_000209.4(PDX1):c.825G>C (p.Ala275=)
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098

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