ClinVar Miner

List of variants in gene NDUFS2 studied for Mitochondrial complex 1 deficiency, nuclear type 6

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Total variants: 32
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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.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_001377299.1(NDUFS2):c.1116+20A>G rs200063148 0.00044
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=) rs145959971 0.00023
NM_001377299.1(NDUFS2):c.393+12G>A rs180970484 0.00011
NM_001377299.1(NDUFS2):c.1213-20C>T rs139327184 0.00009
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val) rs754241926 0.00006
NM_001377299.1(NDUFS2):c.1355-7C>T rs749095282 0.00005
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr) rs140731056 0.00005
NM_001377299.1(NDUFS2):c.998G>A (p.Arg333Gln) rs150981760 0.00004
NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=) rs755626092 0.00003
NM_001377299.1(NDUFS2):c.777G>A (p.Glu259=) rs763804955 0.00003
NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr) rs201897431 0.00002
NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro) rs121434429 0.00001
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys) rs774162709 0.00001
NM_001377299.1(NDUFS2):c.1342G>A (p.Val448Ile)
NM_001377299.1(NDUFS2):c.245T>A (p.Leu82Gln)
NM_001377299.1(NDUFS2):c.393+5G>A rs375651203
NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp) rs1665634865
NM_001377299.1(NDUFS2):c.422A>G (p.Tyr141Cys) rs1665635198
NM_001377299.1(NDUFS2):c.662G>A (p.Arg221Gln) rs779304916
NM_001377299.1(NDUFS2):c.683G>A (p.Arg228Gln) rs121434427
NM_001377299.1(NDUFS2):c.686C>A (p.Pro229Gln) rs121434428
NM_001377299.1(NDUFS2):c.845A>C (p.Glu282Ala)
NM_001377299.1(NDUFS2):c.860G>A (p.Gly287Asp)
NM_001377299.1(NDUFS2):c.934G>C (p.Asp312His) rs1482687384
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459

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