ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_023936.2(MRPS34):c.322-10G>A rs563189672 0.00015
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_018292.5(QRSL1):c.850-3A>G rs947204455 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) rs119470019 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_001206427.2(ATP5MK):c.87+2dup rs1339841048 0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs) rs1491203033 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) rs774456344 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del
NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter) rs1559359546
NM_001136193.2(FASTKD2):c.991-2A>G
NM_001379210.1(SLC25A26):c.191-1G>T
NM_005726.6(TSFM):c.551del (p.Asp184fs)
NM_005932.4(MIPEP):c.1848+2T>G
NM_012123.4(MTO1):c.1274del (p.Gly425fs)
NM_016034.5(MRPS2):c.300-2A>G
NM_018127.7(ELAC2):c.52C>T (p.Gln18Ter)
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
NM_020442.6(VARS2):c.1480-2A>G
NM_020442.6(VARS2):c.420del (p.Met141fs)
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_024678.6(NARS2):c.947del (p.Asn316fs) rs755975670
NM_024996.7(GFM1):c.1765-2_1765-1del rs1245712932
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)

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