ClinVar Miner

List of variants studied for Mitochondrial disease by Wellcome Centre for Mitochondrial Research, Newcastle University

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) rs199730889 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) rs370475970 0.00007
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) rs200944917 0.00006
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) rs376902371 0.00004
NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr) rs1365700579 0.00003
NM_017909.4(RMND1):c.565C>T (p.Gln189Ter) rs886037772 0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105 0.00003
NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) rs1023075742 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) rs397515421 0.00002
NM_017909.4(RMND1):c.830+1G>A rs773470671 0.00002
NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) rs1318084629 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_017909.4(RMND1):c.1317+1G>T rs886037773 0.00001
NC_012920.1(MT-ATP6):m.8839G>C rs1556423547
NC_012920.1(MT-ATP6):m.8993T>C rs199476133
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-ND1):m.3761C>A rs1603219126
NC_012920.1(MT-ND5):m.13051G>A rs1131692063
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-ND6):m.14513_14514del rs1603224770
NC_012920.1(MT-TE):m.14674T>C rs387906421
NC_012920.1(MT-TE):m.14709T>C rs121434453
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TR):m.7731_11256del
NC_012920.1(MT-TS1):m.6005_11222del
NC_012920.1(MT-TS2):m.10106_15067del
NC_012920.1(MT-TS2):m.11263_15374del
NC_012920.1(MT-TS2):m.12114_14420del
NC_012920.1(MT-TS2):m.6470_15588del
NC_012920.1(MT-TS2):m.7129_13991del
NC_012920.1(MT-TS2):m.8290_13040del
NC_012920.1(MT-TS2):m.8483_13459del
NC_012920.1(MT-TS2):m.8587_12967del
NC_012920.1(MT-TS2):m.8815_13722del
NC_012920.1(MT-TS2):m.8839_14895del
NC_012920.1:m.12271T>C rs1131692061
NC_012920.1:m.12283G>A rs1131692062
NC_012920.1:m.7989T>C rs1131692064
NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup) rs775256289
NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) rs1598368033
NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) rs1598367619
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) rs886041081
NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly) rs886041082
NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) rs1555745989
NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) rs750830935
NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) rs758833609
NM_002490.6(NDUFA6):c.309del (p.Met104fs) rs763006208
NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) rs1569463838
NM_002490.6(NDUFA6):c.355del (p.Leu119fs) rs781099275
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_004549.6(NDUFC2):c.173A>T (p.His58Leu) rs1859088426
NM_004549.6(NDUFC2):c.346_*7del (p.His116fs) rs1858924087
NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs) rs1566433812
NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe) rs772751581
NM_005262.3(GFER):c.199del (p.Arg67fs) rs863224028
NM_012062.5(DNM1L):c.1088G>A (p.Gly363Asp) rs2137520923
NM_012062.5(DNM1L):c.1201G>A (p.Gly401Ser) rs1316999302
NM_012062.5(DNM1L):c.2128A>G (p.Arg710Gly) rs2137612346
NM_012062.5(DNM1L):c.687_689dup (p.Leu230dup) rs2137424964
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer) rs515726199
NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala) rs875989831
NM_017909.4(RMND1):c.1303C>T (p.Leu435Phe) rs886037771
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017909.4(RMND1):c.533C>A (p.Thr178Lys) rs370863743
NM_017909.4(RMND1):c.631G>A (p.Val211Met) rs771894262
NM_018480.7(TMEM126B):c.401del (p.Asn134fs) rs886037835
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet) rs1572079834
NM_020247.5(COQ8A):c.730+608_854-25del
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) rs1554887028
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) rs111033577
NM_021830.5(TWNK):c.1374G>T (p.Gln458His) rs1554887213
NM_021830.5(TWNK):c.1391T>C (p.Leu464Pro) rs1554887222
NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser) rs1554042187
NM_032380.5(GFM2):c.636del (p.Glu213fs) rs746538436
NM_032906.5(PYURF):c.289_290dup (p.Gln97fs) rs1431826489
NM_130837.3(OPA1):c.1363C>T (p.Pro455Ser) rs1553877864
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val) rs387906899
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.2873_2876del rs80356530

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