ClinVar Miner

List of variants in gene NDUFS6 studied for Mitochondrial complex 1 deficiency, nuclear type 9

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004553.6(NDUFS6):c.132+26A>C rs2242412 0.85626
NM_004553.6(NDUFS6):c.309+208T>C rs4147773 0.73596
NM_004553.6(NDUFS6):c.187-84C>T rs3752844 0.25262
NM_004553.6(NDUFS6):c.310-15T>C rs10058270 0.10920
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp) rs863224110 0.00003
NM_004553.6(NDUFS6):c.83T>A (p.Phe28Tyr) rs905716566 0.00002
NM_004553.6(NDUFS6):c.309+5G>A rs763535523 0.00001
NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter) rs769666581 0.00001
NM_004553.6(NDUFS6):c.109G>T (p.Glu37Ter)
NM_004553.6(NDUFS6):c.182_185del (p.Lys61fs)
NM_004553.6(NDUFS6):c.186+1G>A
NM_004553.6(NDUFS6):c.186+2T>A rs1561102614
NM_004553.6(NDUFS6):c.187-1G>C
NM_004553.6(NDUFS6):c.187-53_187-50del rs36074605
NM_004553.6(NDUFS6):c.223C>T (p.Gln75Ter)
NM_004553.6(NDUFS6):c.242del (p.Glu81fs)
NM_004553.6(NDUFS6):c.302_303del (p.Ile101fs)
NM_004553.6(NDUFS6):c.309+1G>T
NM_004553.6(NDUFS6):c.314_315del (p.Lys105fs)
NM_004553.6(NDUFS6):c.320_323del (p.Thr107fs)
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr) rs267606913
NM_004553.6(NDUFS6):c.356T>A (p.Phe119Tyr) rs2111364938
NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val)
NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr) rs1579936916
NM_004553.6(NDUFS6):c.92G>T (p.Arg31Leu) rs770018272
nsv1197507

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