ClinVar Miner

List of variants in gene NDUFS2 studied for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001377299.1(NDUFS2):c.*114A>G rs1136224 0.13305
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_004550.5(NDUFS2):c.-388G>T rs3813623 0.11879
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_001377299.1(NDUFS2):c.986+12A>G rs11265565 0.01793
NM_001377299.1(NDUFS2):c.1212+7A>G rs36233987 0.00606
NM_001377299.1(NDUFS2):c.514+11C>T rs76309459 0.00593
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_004550.5(NDUFS2):c.-223C>G rs74124661 0.00446
NM_004550.5(NDUFS2):c.-298C>G rs41270845 0.00436
NM_001377299.1(NDUFS2):c.*108A>T rs191955041 0.00316
NM_001377299.1(NDUFS2):c.1355-4C>G rs147235167 0.00265
NM_001377299.1(NDUFS2):c.866+8G>A rs142594036 0.00231
NM_004550.5(NDUFS2):c.-346G>A rs189165754 0.00223
NM_004550.5(NDUFS2):c.-218G>A rs563669084 0.00175
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_001377299.1(NDUFS2):c.628-12C>T rs202121443 0.00075
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=) rs149953813 0.00040
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=) rs145959971 0.00023
NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=) rs145578059 0.00019
NM_001377299.1(NDUFS2):c.1354+10C>A rs201275792 0.00018
NM_001377299.1(NDUFS2):c.515-3C>A rs149789018 0.00010
NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=) rs41428447 0.00009
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val) rs754241926 0.00006
NM_004550.5(NDUFS2):c.-156G>A rs886045457 0.00006
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr) rs140731056 0.00005
NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=) rs140324736 0.00002
NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=) rs886045464 0.00001
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys) rs774162709 0.00001
NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=) rs569128565 0.00001
NM_004550.5(NDUFS2):c.-159C>A rs886045456 0.00001
NM_001377299.1(NDUFS2):c.*187G>A rs886045469
NM_001377299.1(NDUFS2):c.628-17del rs775653766
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_001377299.1(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_001377299.1(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_004550.5(NDUFS2):c.-388G>A rs3813623

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