ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (57):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004614.5(TK2):c.388C>T (p.Arg130Trp) rs281865493 0.00008
NM_003849.4(SUCLG1):c.452A>C (p.Asp151Ala) rs778946494 0.00006
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002693.3(POLG):c.1816dup (p.Thr606fs) rs1319481399 0.00001
NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp) rs1233249991 0.00001
NM_015713.5(RRM2B):c.204+5G>A rs372991229 0.00001
NM_001278716.2(FBXL4):c.1104-2646A>G
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001953.5(TYMP):c.356G>A (p.Gly119Glu)
NM_001953.5(TYMP):c.833G>A (p.Gly278Asp)
NM_002437.5(MPV17):c.279+1G>T rs1572543564
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_012140.5(SLC25A10):c.534+5G>T
NM_015713.5(RRM2B):c.184del (p.Ser62fs)
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015713.5(RRM2B):c.94G>T (p.Glu32Ter)
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_052865.4(MGME1):c.589_590del (p.Arg196_Asp197insTer)
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988

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