List of variants in gene TMEM126B studied for Mitochondrial complex 1 deficiency, nuclear type 29

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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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.397G>A (p.Asp133Asn)	rs573006534	0.00007
NM_018480.7(TMEM126B):c.137del (p.Ala46fs)	rs764565613	0.00001
NM_018480.7(TMEM126B):c.208C>T (p.Gln70Ter)	rs886037857
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs)	rs752316853
NM_018480.7(TMEM126B):c.401del (p.Asn134fs)	rs886037835
NM_018480.7(TMEM126B):c.421_422del (p.Val141fs)	rs747181703
NM_018480.7(TMEM126B):c.626T>C (p.Ile209Thr)

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