ClinVar Miner

List of variants reported as likely pathogenic by Kangwon National University Hospital

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ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.89T>C (p.Leu30Pro) rs876661320

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