ClinVar Miner

List of variants reported as likely pathogenic for Permanent neonatal diabetes mellitus 1

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.1155del (p.Leu386fs)	rs1400535021
NM_000162.5(GCK):c.359dup (p.Met121fs)	rs2128822614
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)	rs104894010

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