ClinVar Miner

List of variants studied for maturity-onset diabetes of the young type 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) rs564129447 0.00041
NM_000209.4(PDX1):c.296C>A (p.Pro99His) rs764870332 0.00013
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln) rs1357043267 0.00012
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) rs753881947 0.00003
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) rs930365498 0.00003
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala) rs1380564366 0.00002
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000209.4(PDX1):c.463C>A (p.Arg155Ser) rs773643850 0.00001
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000209.4(PDX1):c.98C>A (p.Pro33His) rs767363575 0.00001
NM_000209.4(PDX1):c.101C>T (p.Ala34Val) rs750219172
NM_000209.4(PDX1):c.124C>A (p.Pro42Thr)
NM_000209.4(PDX1):c.146C>G (p.Pro49Arg)
NM_000209.4(PDX1):c.184C>A (p.Pro62Thr)
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.190G>A (p.Asp64Asn)
NM_000209.4(PDX1):c.272C>T (p.Ala91Val)
NM_000209.4(PDX1):c.280C>T (p.His94Tyr)
NM_000209.4(PDX1):c.284C>A (p.Pro95Gln)
NM_000209.4(PDX1):c.286C>G (p.Pro96Ala)
NM_000209.4(PDX1):c.307G>A (p.Gly103Arg)
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.338A>G (p.Asn113Ser)
NM_000209.4(PDX1):c.384C>G (p.His128Gln)
NM_000209.4(PDX1):c.390G>T (p.Trp130Cys)
NM_000209.4(PDX1):c.394G>A (p.Gly132Ser)
NM_000209.4(PDX1):c.411C>T (p.Gly137=)
NM_000209.4(PDX1):c.413C>T (p.Ala138Val)
NM_000209.4(PDX1):c.422C>A (p.Ala141Glu)
NM_000209.4(PDX1):c.506A>G (p.Lys169Arg)
NM_000209.4(PDX1):c.545T>C (p.Met182Thr)
NM_000209.4(PDX1):c.546G>A (p.Met182Ile)
NM_000209.4(PDX1):c.563G>C (p.Arg188Thr)
NM_000209.4(PDX1):c.664G>A (p.Glu222Lys)
NM_000209.4(PDX1):c.667C>T (p.Pro223Ser)
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
NM_000209.4(PDX1):c.697G>A (p.Glu233Lys)
NM_000209.4(PDX1):c.716C>T (p.Pro239Leu)
NM_000209.4(PDX1):c.722del (p.Pro241fs)
NM_000209.4(PDX1):c.729_731delinsGCCCCG (p.Pro244_Gly245insArg)
NM_000209.4(PDX1):c.732dup (p.Gly245fs)
NM_000209.4(PDX1):c.766G>T (p.Ala256Ser)
NM_000209.4(PDX1):c.776del (p.Gly259fs)
NM_000209.4(PDX1):c.84C>G (p.Phe28Leu)
NM_000209.4(PDX1):c.92G>A (p.Ser31Asn)
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser)

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