| 155795908 | CV1858511 | deletion | NM_006004.4(UQCRH):c.55-527_243+48del | Mitochondrial complex 3 deficiency, nuclear type 11 [RCV002462821] | pathogenic | 1 | 46308573 | 46310363 | Human | 1 | name |
| 405810517 | CV3345308 | single nucleotide variant | NM_006004.4(UQCRH):c.16G>A (p.Glu6Lys) | not specified [RCV004482268] | uncertain significance | 1 | 46303782 | 46303782 | Human | | name |
| 401734206 | CV2690511 | single nucleotide variant | NM_006004.4(UQCRH):c.40G>C (p.Gly14Arg) | not specified [RCV004304630] | uncertain significance | 1 | 46303806 | 46303806 | Human | | name |
| 329362828 | CV2449399 | single nucleotide variant | NM_006004.4(UQCRH):c.155T>G (p.Leu52Arg) | not specified [RCV004266559] | uncertain significance | 1 | 46310228 | 46310228 | Human | | name |
| 329357962 | CV2453829 | single nucleotide variant | NM_006004.4(UQCRH):c.149T>C (p.Leu50Pro) | not specified [RCV004271232] | uncertain significance | 1 | 46310222 | 46310222 | Human | | name |
| 329382610 | CV2465287 | single nucleotide variant | NM_006004.4(UQCRH):c.252C>G (p.His84Gln) | not specified [RCV004281085] | uncertain significance | 1 | 46316560 | 46316560 | Human | | name |
| 401927938 | CV2812782 | single nucleotide variant | NM_006004.4(UQCRH):c.256C>A (p.Leu86Ile) | not provided [RCV003406474] | uncertain significance | 1 | 46316564 | 46316564 | Human | | name |
| 407454905 | CV3489456 | single nucleotide variant | NM_006004.4(UQCRH):c.167G>A (p.Arg56His) | not specified [RCV004685293] | uncertain significance | 1 | 46310240 | 46310240 | Human | | name |
| 597721846 | CV3629253 | single nucleotide variant | NM_006004.4(UQCRH):c.175T>A (p.Ser59Thr) | not specified [RCV004887949] | uncertain significance | 1 | 46310248 | 46310248 | Human | | name |
| 598191785 | CV3936196 | single nucleotide variant | NM_006004.4(UQCRH):c.144G>C (p.Glu48Asp) | not specified [RCV005288412] | uncertain significance | 1 | 46310217 | 46310217 | Human | | name |
| 15155687 | CV706759 | single nucleotide variant | NM_001089591.2(UQCRHL):c.171A>G (p.Val57=) | not provided [RCV000968970] | benign | 1 | 15807479 | 15807479 | Human | | name |
| 155982011 | CV2233141 | single nucleotide variant | NM_001089591.2(UQCRHL):c.29T>C (p.Leu10Pro) | not specified [RCV004103755] | uncertain significance | 1 | 15807621 | 15807621 | Human | | name |
| 156115334 | CV2349290 | single nucleotide variant | NM_001089591.2(UQCRHL):c.40G>A (p.Gly14Arg) | not specified [RCV004199237] | uncertain significance | 1 | 15807610 | 15807610 | Human | | name |
| 401858043 | CV2774158 | single nucleotide variant | NM_001089591.2(UQCRHL):c.85C>T (p.Pro29Ser) | not specified [RCV004345748] | uncertain significance | 1 | 15807565 | 15807565 | Human | | name |
| 597721857 | CV3629254 | single nucleotide variant | NM_001089591.2(UQCRHL):c.43G>T (p.Asp15Tyr) | not specified [RCV004887950] | uncertain significance | 1 | 15807607 | 15807607 | Human | | name |
| 156095936 | CV2210338 | single nucleotide variant | NM_001089591.2(UQCRHL):c.139C>T (p.Arg47Trp) | not specified [RCV004089493] | uncertain significance | 1 | 15807511 | 15807511 | Human | | name |
| 156056980 | CV2243360 | single nucleotide variant | NM_001089591.2(UQCRHL):c.134A>T (p.Lys45Met) | not specified [RCV004112052] | uncertain significance | 1 | 15807516 | 15807516 | Human | | name |
| 401741289 | CV2680587 | single nucleotide variant | NM_001089591.2(UQCRHL):c.143A>G (p.Glu48Gly) | not specified [RCV004291213] | uncertain significance | 1 | 15807507 | 15807507 | Human | | name |
| 401761861 | CV2726937 | single nucleotide variant | NM_001089591.2(UQCRHL):c.160G>C (p.Asp54His) | not specified [RCV004323219] | uncertain significance | 1 | 15807490 | 15807490 | Human | | name |
| 401883331 | CV2757866 | single nucleotide variant | NM_001089591.2(UQCRHL):c.116A>G (p.Gln39Arg) | not specified [RCV004337008] | uncertain significance | 1 | 15807534 | 15807534 | Human | | name |
| 401892502 | CV2782096 | single nucleotide variant | NM_001089591.2(UQCRHL):c.179G>A (p.Arg60Gln) | not specified [RCV004359090] | uncertain significance | 1 | 15807471 | 15807471 | Human | | name |
| 405810515 | CV3345309 | single nucleotide variant | NM_001089591.2(UQCRHL):c.140G>A (p.Arg47Gln) | not specified [RCV004482269] | uncertain significance | 1 | 15807510 | 15807510 | Human | | name |
| 405810513 | CV3345310 | single nucleotide variant | NM_001089591.2(UQCRHL):c.244G>A (p.Val82Met) | not specified [RCV004482270] | uncertain significance | 1 | 15807406 | 15807406 | Human | | name |
| 598191791 | CV3936197 | single nucleotide variant | NM_001089591.2(UQCRHL):c.154C>T (p.Leu52Phe) | not specified [RCV005288413] | uncertain significance | 1 | 15807496 | 15807496 | Human | | name |
| 15155229 | CV696185 | single nucleotide variant | NM_001089591.2(UQCRHL):c.158A>G (p.Tyr53Cys) | not provided [RCV000946449] | benign | 1 | 15807492 | 15807492 | Human | | name |