ClinVar Miner

List of variants reported as likely pathogenic for pancreas disorder by Ambry Genetics

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001868.4(CPA1):c.829G>A (p.Gly277Ser) rs782790983 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs)
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.449_451del (p.Phe150del)
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.580-1G>C
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.731T>A (p.Val244Glu)
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.753G>A (p.Met251Ile)
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.899A>G (p.Glu300Gly)
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.217del (p.Leu73fs)
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.327-3_327-1del rs1593054210
NM_000545.8(HNF1A):c.527-1G>C
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser) rs1180119907
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
NM_000545.8(HNF1A):c.955+2T>C
NM_001379610.1(SPINK1):c.162del (p.Asn56fs)
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
NM_001379610.1(SPINK1):c.55+1G>A
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)
NM_007272.3(CTRC):c.494-1G>A
NM_007272.3(CTRC):c.627dup (p.Ser210fs)
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-1G>C
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127

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