ClinVar Miner

List of variants in gene RMND1 reported as uncertain significance for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_017909.4(RMND1):c.1085G>A (p.Arg362His) rs142588921 0.00091
NM_017909.4(RMND1):c.795C>G (p.His265Gln) rs150706976 0.00060
NM_017909.4(RMND1):c.852G>C (p.Arg284Ser) rs139955178 0.00027
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_017909.4(RMND1):c.260G>A (p.Arg87His) rs142059662 0.00011
NM_017909.4(RMND1):c.257C>T (p.Ala86Val) rs746842151 0.00006
NM_017909.4(RMND1):c.1084C>T (p.Arg362Cys) rs755188314 0.00004
NM_017909.4(RMND1):c.526T>A (p.Phe176Ile) rs562882988 0.00004
NM_017909.4(RMND1):c.68G>A (p.Arg23Gln) rs377114459 0.00004
NM_017909.4(RMND1):c.188A>G (p.Asn63Ser) rs374223733 0.00003
NM_017909.4(RMND1):c.661G>C (p.Gly221Arg) rs1275538949 0.00003
NM_017909.4(RMND1):c.1318-11T>C rs765780346 0.00002
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) rs746632175 0.00002
NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys) rs778086286 0.00001
NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser) rs755793918 0.00001
NM_017909.4(RMND1):c.530C>T (p.Ala177Val) rs1261711776 0.00001
NM_017909.4(RMND1):c.1049T>C (p.Met350Thr) rs1582950315
NM_017909.4(RMND1):c.1159G>C (p.Asp387His) rs372096369
NM_017909.4(RMND1):c.1286A>T (p.Glu429Val) rs1582936202
NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr) rs1411929426
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)
NM_017909.4(RMND1):c.703G>A (p.Val235Met)

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