List of variants reported as pathogenic for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

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Total variants: 11

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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
NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys)	rs749922789	0.00005
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)	rs752022363	0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	rs622288	0.00004
NM_018116.4(MSTO1):c.966+1G>A	rs771965165	0.00001
NM_018116.4(MSTO1):c.1099-1G>A	rs745944305
NM_018116.4(MSTO1):c.1128C>A (p.Phe376Leu)	rs1553295536
NM_018116.4(MSTO1):c.1190G>A (p.Trp397Ter)
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)	rs1248439783
NM_018116.4(MSTO1):c.79C>T (p.Gln27Ter)	rs1673545403

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