ClinVar Miner

List of variants studied for pancreas disorder by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000162.5(GCK):c.245C>T (p.Thr82Ile)
NM_000162.5(GCK):c.704T>C (p.Met235Thr) rs193922323
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698

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