ClinVar Miner

List of variants reported as pathogenic by Endocrine Unit 2, University Hospital of Pisa

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004064.5(CDKN1B):c.-80C>T	rs551236750	0.00021
NM_001370259.2(MEN1):c.152del (p.Asn51fs)	rs869312167
NM_004064.5(CDKN1B):c.-31AG[1]	rs774454456

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