ClinVar Miner

List of variants in gene NDUFAF6 studied for X-linked disease

Included ClinVar conditions (313):
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) rs1057519085
NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) rs1057519084
NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) rs137853184
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170
NM_152416.4(NDUFAF6):c.420+784C>T
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736
NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs)
NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) rs768273248
NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) rs1057519086
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028

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