ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 13 by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp)	rs2128378917
NM_001278716.2(FBXL4):c.736dup (p.Ile246fs)	rs2128400842

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