ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (79):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys) rs35302908 0.00884
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) rs145043138 0.00200
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys) rs749594049 0.00003
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys) rs778983997 0.00002
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) rs536180346 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_024996.7(GFM1):c.607A>G (p.Ile203Val) rs1722079229 0.00001
NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr) rs767434617 0.00001
NM_006567.5(FARS2):c.559C>G (p.His187Asp) rs1758874173
NM_012123.4(MTO1):c.153_174del (p.Thr53fs) rs1770832882
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter) rs1785274253
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter) rs1786349461
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) rs1555342802
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu) rs1722451256
NM_145691.4(ATPAF2):c.98del (p.Ile33fs) rs2044747934

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