ClinVar Miner

List of variants studied for Permanent neonatal diabetes mellitus 1 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)

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