ClinVar Miner

List of variants reported as uncertain significance for mitochondrial DNA depletion syndrome by Baylor Genetics

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr) rs143154211 0.00076
NM_052865.4(MGME1):c.659G>A (p.Arg220Gln) rs201465869 0.00059
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg) rs144441199 0.00025
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_001278716.2(FBXL4):c.131C>A (p.Thr44Asn) rs199983343 0.00013
NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys) rs141331864 0.00013
NM_003849.4(SUCLG1):c.635A>G (p.Gln212Arg) rs767781003 0.00011
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_003849.4(SUCLG1):c.298G>C (p.Val100Leu) rs140441011 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) rs1032930719 0.00004
NM_003850.3(SUCLA2):c.132A>C (p.Gln44His) rs146794237 0.00004
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) rs180989155 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_052865.4(MGME1):c.1018C>A (p.Pro340Thr) rs1024634197 0.00004
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_003849.4(SUCLG1):c.262C>T (p.Pro88Ser) rs751480162 0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His) rs267607025 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1868T>G (p.Leu623Trp) rs758438414 0.00002
NM_002693.3(POLG):c.2115G>A (p.Met705Ile) rs1302161574 0.00002
NM_001278716.2(FBXL4):c.539C>T (p.Pro180Leu) rs1015958378 0.00001
NM_002693.3(POLG):c.1A>G (p.Met1Val) rs201786897 0.00001
NM_002693.3(POLG):c.2777G>A (p.Ser926Asn) rs752971760 0.00001
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) rs1382315425 0.00001
NM_080916.3(DGUOK):c.13C>T (p.Arg5Cys) rs977157089 0.00001
NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly) rs2051684928
NM_001151.4(SLC25A4):c.706C>T (p.Arg236Cys)
NM_001151.4(SLC25A4):c.874G>C (p.Asp292His) rs1734452457
NM_001278716.2(FBXL4):c.1389+11G>A rs1770815162
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.65G>C (p.Arg22Pro) rs147696366
NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu) rs138206466
NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg) rs773643115
NM_001953.5(TYMP):c.113A>G (p.Glu38Gly) rs1240133140
NM_002693.3(POLG):c.2384A>G (p.Asn795Ser) rs2055414996
NM_002693.3(POLG):c.2483A>T (p.His828Leu) rs533807211
NM_003201.3(TFAM):c.291+9A>G
NM_003849.4(SUCLG1):c.532_533delinsAA (p.Pro178Asn) rs1672764673
NM_003850.3(SUCLA2):c.880T>C (p.Trp294Arg) rs756098740
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)
NM_006796.3(AFG3L2):c.1501G>A (p.Glu501Lys) rs1908302608
NM_006796.3(AFG3L2):c.7C>T (p.His3Tyr) rs1909186789
NM_015713.5(RRM2B):c.1010T>A (p.Met337Lys) rs1810576234
NM_015713.5(RRM2B):c.1022C>G (p.Thr341Arg) rs1425182214
NM_015713.5(RRM2B):c.475A>G (p.Ile159Val) rs863224190
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015713.5(RRM2B):c.514G>A (p.Ala172Thr) rs753891041
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282

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