ClinVar Miner

List of variants reported as benign for Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)	rs143663847	0.01456
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	rs5352	0.01109

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