List of variants reported as likely pathogenic for pancreas disorder by National Newborn Screening Laboratory, Hospital Nacional de Niños

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	rs137853242	0.00060
NM_000162.5(GCK):c.102G>A (p.Met34Ile)	rs2096283252
NM_000162.5(GCK):c.1079C>A (p.Ser360Ter)	rs2128819357
NM_000162.5(GCK):c.115_117del (p.Lys39del)	rs2096283216
NM_000162.5(GCK):c.1312T>G (p.Phe438Val)	rs2128818820
NM_000162.5(GCK):c.208+2T>C	rs2128823089
NM_000162.5(GCK):c.208G>A (p.Glu70Lys)	rs2128823091
NM_000162.5(GCK):c.475A>G (p.Ile159Val)	rs1319364468
NM_000162.5(GCK):c.485G>A (p.Gly162Asp)	rs1170194230
NM_000162.5(GCK):c.524G>C (p.Gly175Ala)	rs2128821624
NM_000162.5(GCK):c.52C>T (p.Gln18Ter)	rs1300199281
NM_000162.5(GCK):c.614A>G (p.Asp205Gly)	rs2128821509
NM_000162.5(GCK):c.614A>T (p.Asp205Val)	rs2128821509
NM_000162.5(GCK):c.771G>A (p.Trp257Ter)	rs2128820597
NM_000162.5(GCK):c.89T>C (p.Leu30Pro)	rs876661320
NM_000162.5(GCK):c.941T>G (p.Leu314Arg)	rs1554334886
NM_000545.8(HNF1A):c.26A>T (p.Gln9Leu)	rs1876081310

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