ClinVar Miner

List of variants studied for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_012123.4(MTO1):c.1129+246G>A	rs118010902	0.00049
NM_012123.4(MTO1):c.97del (p.Arg33fs)	rs1582666067

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