ClinVar Miner

List of variants reported as pathogenic for Childhood myocerebrohepatopathy spectrum by Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	rs201732356	0.00003
NM_002693.3(POLG):c.3102del (p.Lys1035fs)	rs2055358006

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