ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 17 by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) rs1057519084 0.00001
NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) rs1057519085
NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) rs137853184
NM_152416.4(NDUFAF6):c.420+2_420+3insTA rs1829405956
NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs) rs1179490149
NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) rs768273248
NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) rs1057519086

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