ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 29 by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs) rs752316853
NM_018480.7(TMEM126B):c.626T>C (p.Ile209Thr)

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