ClinVar Miner

List of variants reported as uncertain significance for Combined oxidative phosphorylation defect type 7; Spastic paraplegia

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln) rs144150548 0.00058
NM_152269.5(MTRFR):c.112G>A (p.Val38Ile) rs146534475 0.00014
NM_152269.5(MTRFR):c.56C>T (p.Ala19Val) rs140452371 0.00011
NM_152269.5(MTRFR):c.326G>A (p.Arg109Gln) rs147098739 0.00010
NM_152269.5(MTRFR):c.32C>T (p.Thr11Ile) rs143410718 0.00009
NM_152269.5(MTRFR):c.325C>T (p.Arg109Trp) rs372252104 0.00006
NM_152269.5(MTRFR):c.181G>A (p.Glu61Lys) rs768652922 0.00004
NM_152269.5(MTRFR):c.244G>A (p.Val82Met) rs374311195 0.00002
NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser) rs751310720 0.00002
NM_152269.5(MTRFR):c.459G>C (p.Lys153Asn) rs773644413 0.00002
NM_152269.5(MTRFR):c.296G>A (p.Arg99Lys) rs367548363 0.00001
NM_152269.5(MTRFR):c.297A>T (p.Arg99Ser) rs1459276555 0.00001
NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr) rs749208492 0.00001
NM_152269.5(MTRFR):c.475T>C (p.Trp159Arg) rs755467137 0.00001
NC_000012.11:g.(?_123738222)_(123738523_?)dup
NC_000012.12:g.(?_123253665)_(123257041_?)dup
NM_152269.5(MTRFR):c.104_105delinsAT (p.Gly35Asp) rs2138792679
NM_152269.5(MTRFR):c.136A>G (p.Lys46Glu) rs2138792797
NM_152269.5(MTRFR):c.136AAG[1] (p.Lys47del)
NM_152269.5(MTRFR):c.160T>C (p.Ser54Pro)
NM_152269.5(MTRFR):c.166G>C (p.Asp56His)
NM_152269.5(MTRFR):c.191T>C (p.Phe64Ser)
NM_152269.5(MTRFR):c.194T>C (p.Val65Ala) rs2138793021
NM_152269.5(MTRFR):c.229A>G (p.Lys77Glu)
NM_152269.5(MTRFR):c.22C>G (p.His8Asp)
NM_152269.5(MTRFR):c.256C>G (p.His86Asp)
NM_152269.5(MTRFR):c.257A>T (p.His86Leu) rs1565998038
NM_152269.5(MTRFR):c.269G>A (p.Gly90Asp)
NM_152269.5(MTRFR):c.26T>C (p.Phe9Ser)
NM_152269.5(MTRFR):c.274G>A (p.Val92Ile) rs781746861
NM_152269.5(MTRFR):c.346G>A (p.Val116Ile)
NM_152269.5(MTRFR):c.347T>G (p.Val116Gly)
NM_152269.5(MTRFR):c.355T>C (p.Phe119Leu)
NM_152269.5(MTRFR):c.361A>G (p.Asn121Asp) rs1473803862
NM_152269.5(MTRFR):c.364G>A (p.Gly122Ser)
NM_152269.5(MTRFR):c.371_373del (p.Asn124del) rs1195098928
NM_152269.5(MTRFR):c.389A>C (p.Glu130Ala)
NM_152269.5(MTRFR):c.410A>G (p.Lys137Arg)
NM_152269.5(MTRFR):c.419A>G (p.Glu140Gly) rs1255911546
NM_152269.5(MTRFR):c.41C>T (p.Thr14Ile)
NM_152269.5(MTRFR):c.430_432del (p.Arg144del)
NM_152269.5(MTRFR):c.431G>A (p.Arg144Lys)
NM_152269.5(MTRFR):c.455A>G (p.Lys152Arg)
NM_152269.5(MTRFR):c.486T>A (p.Ser162Arg) rs371852394
NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg) rs371852394
NM_152269.5(MTRFR):c.53C>T (p.Pro18Leu) rs930288422
NM_152269.5(MTRFR):c.71G>T (p.Arg24Leu) rs144150548

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