ClinVar Miner

List of variants reported as likely benign for Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000162.5(GCK):c.579+12C>G rs202001955

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