ClinVar Miner

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

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Total variants: 4
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NM_001350393.1(TMEM126B):c.172+103G>A rs573006534
NM_018480.5(TMEM126B):c.208C>T (p.Gln70Ter) rs886037857
NM_018480.5(TMEM126B):c.401del (p.Asn134fs) rs886037835
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) rs141542003

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