ClinVar Miner

List of variants studied for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome by Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)	rs563943670	0.00008
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)	rs1248439783

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