ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Mendelics

Included ClinVar conditions (57):
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ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_052865.4(MGME1):c.794C>T (p.Thr265Ile) rs76599088 0.00768
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_012140.5(SLC25A10):c.763-37G>A rs200706742 0.00053
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) rs140626260 0.00002
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_000326.5(RLBP1):c.504_508del (p.Ser168fs) rs1379405913
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr) rs995995791
NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter) rs1582425406
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_003849.4(SUCLG1):c.201+1G>T rs1573374828
NM_003849.4(SUCLG1):c.457_458delinsTA (p.Val153Ter) rs1573369929
NM_003849.4(SUCLG1):c.458T>A (p.Val153Glu) rs1573369925
NM_003849.4(SUCLG1):c.643C>T (p.Gln215Ter) rs2104245141
NM_003850.3(SUCLA2):c.887del (p.Gln296fs) rs1593479845
NM_003850.3(SUCLA2):c.91-10A>G rs754813556
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_004614.5(TK2):c.414C>A (p.Ser138Arg) rs773566302
NM_004614.5(TK2):c.557C>G (p.Pro186Arg)
NM_004614.5(TK2):c.692C>T (p.Pro231Leu) rs2144339570
NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) rs587780587
NM_080916.3(DGUOK):c.707+2T>G rs1573582059

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