ClinVar Miner

List of variants in gene MIPEP studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_005932.4(MIPEP):c.1462A>G (p.Ser488Gly) rs7333040 0.98618
NM_005932.4(MIPEP):c.1970+20A>C rs11620036 0.20535
NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp) rs150308123 0.00111
NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro) rs150167906 0.00080
NM_005932.4(MIPEP):c.1728+7A>G rs186873433 0.00064
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr) rs139684349 0.00031
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr) rs202147615 0.00006
NM_005932.4(MIPEP):c.1090G>A (p.Val364Met) rs780905427 0.00004
NM_005932.4(MIPEP):c.1526G>A (p.Arg509His) rs369521380 0.00004
NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys) rs749594049 0.00003
NM_005932.4(MIPEP):c.1679G>A (p.Arg560His) rs753252850 0.00002
NM_005932.4(MIPEP):c.1970+2T>A rs773688171 0.00002
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) rs143912947 0.00002
NM_005932.4(MIPEP):c.1354A>C (p.Ile452Leu) rs756060769 0.00001
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn) rs780533096 0.00001
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp) rs768628283 0.00001
NM_005932.4(MIPEP):c.786+1G>C rs1408067328 0.00001
NM_005932.4(MIPEP):c.1008T>G (p.Phe336Leu) rs1870346695
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.4(MIPEP):c.1088G>T (p.Gly363Val) rs1870163153
NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro) rs1869287041
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) rs114638163
NM_005932.4(MIPEP):c.1848+2T>G
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)
NM_005932.4(MIPEP):c.309G>T (p.Gln103His)
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter) rs866158774
NM_005932.4(MIPEP):c.890G>C (p.Gly297Ala)

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