ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_018116.4(MSTO1):c.561-17A>G rs1200697 0.97601
NM_018116.4(MSTO1):c.1426C>T (p.Pro476Ser) rs144717081 0.02062
NM_018116.4(MSTO1):c.1059G>A (p.Met353Ile) rs149262326 0.00092
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00013
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu) rs776826330 0.00012
NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp) rs777651549 0.00009
NM_018116.4(MSTO1):c.1229G>A (p.Arg410His) rs767313156 0.00008
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.22G>A (p.Val8Met) rs762798018 0.00005
NM_018116.4(MSTO1):c.1021A>G (p.Thr341Ala) rs757761857 0.00004
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.1600C>T (p.Arg534Cys) rs779998857 0.00003
NM_018116.4(MSTO1):c.1024G>A (p.Val342Ile) rs764746264 0.00001
NM_018116.4(MSTO1):c.966+1G>A rs771965165 0.00001
NM_018116.4(MSTO1):c.1034G>A (p.Arg345His)
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.1433A>G (p.Tyr478Cys) rs1210628887
NM_018116.4(MSTO1):c.1435C>T (p.Pro479Ser) rs1674934230
NM_018116.4(MSTO1):c.1547T>C (p.Leu516Pro)
NM_018116.4(MSTO1):c.154C>G (p.Arg52Gly)
NM_018116.4(MSTO1):c.220+5G>C
NM_018116.4(MSTO1):c.262G>T (p.Asp88Tyr)
NM_018116.4(MSTO1):c.280G>A (p.Ala94Thr)
NM_018116.4(MSTO1):c.305C>T (p.Thr102Ile)
NM_018116.4(MSTO1):c.422-3C>G rs2148988026
NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter) rs1208636573
NM_018116.4(MSTO1):c.707A>G (p.Asp236Gly) rs1674285118
NM_018116.4(MSTO1):c.716C>A (p.Ser239Tyr)
NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)
NM_018116.4(MSTO1):c.767G>A (p.Arg256Gln)
NM_018116.4(MSTO1):c.79C>T (p.Gln27Ter) rs1673545403

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