ClinVar Miner

List of variants reported for Combined oxidative phosphorylation defect type 11 by Fulgent Genetics, Fulgent Genetics

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_017909.4(RMND1):c.783C>T (p.Ile261=) rs17081207 0.00841
NM_017909.4(RMND1):c.1209T>C (p.Asn403=) rs75177593 0.00108
NM_017909.4(RMND1):c.1167G>A (p.Thr389=) rs116201484 0.00071
NM_017909.4(RMND1):c.795C>G (p.His265Gln) rs150706976 0.00060
NM_017909.4(RMND1):c.260G>A (p.Arg87His) rs142059662 0.00011
NM_017909.4(RMND1):c.690-20C>G rs770275231 0.00011
NM_017909.4(RMND1):c.614-18G>A rs764159292 0.00009
NM_017909.4(RMND1):c.257C>T (p.Ala86Val) rs746842151 0.00006
NM_017909.4(RMND1):c.1077A>G (p.Leu359=) rs766598526 0.00004
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.1250G>A (p.Arg417Gln) rs397515421 0.00002
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) rs746632175 0.00002
NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser) rs755793918 0.00001
NM_017909.4(RMND1):c.201C>A (p.Ile67=) rs182333944 0.00001
NM_017909.4(RMND1):c.501C>T (p.Asn167=) rs374790732 0.00001
NM_017909.4(RMND1):c.1159G>C (p.Asp387His) rs372096369
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs) rs769890347
NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr) rs1411929426
NM_017909.4(RMND1):c.485del (p.Pro162fs) rs759477396

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