ClinVar Miner

List of variants reported for Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome; Pancreatic agenesis 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) rs370163562 0.00109
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr) rs1443229654 0.00007
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu) rs886046909 0.00002

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