ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 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_018116.4(MSTO1):c.706G>C (p.Asp236His)	rs753488873	0.00013
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)	rs563943670	0.00008

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