ClinVar Miner

List of variants studied for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome by 3billion

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_018116.4(MSTO1):c.22G>A (p.Val8Met)	rs762798018	0.00005
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	rs622288	0.00004
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)	rs1248439783
NM_018116.4(MSTO1):c.262G>T (p.Asp88Tyr)

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