List of variants reported as likely pathogenic for Mitochondrial complex 1 deficiency, nuclear type 9 by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter)	rs769666581	0.00001
NM_004553.6(NDUFS6):c.109G>T (p.Glu37Ter)	rs759473851
NM_004553.6(NDUFS6):c.182_185del (p.Lys61fs)	rs1182595182
NM_004553.6(NDUFS6):c.185_186del (p.Glu62fs)	rs1561102612
NM_004553.6(NDUFS6):c.186+1G>A	rs1734061080
NM_004553.6(NDUFS6):c.187-1G>C	rs2477240280
NM_004553.6(NDUFS6):c.187-2A>T	rs2477240276
NM_004553.6(NDUFS6):c.242del (p.Glu81fs)	rs2477240409
NM_004553.6(NDUFS6):c.302_303del (p.Ile101fs)	rs773292120
NM_004553.6(NDUFS6):c.309+1G>C	rs1169689300
NM_004553.6(NDUFS6):c.309+1G>T	rs1169689300
NM_004553.6(NDUFS6):c.314_315del (p.Lys105fs)	rs2477243665
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)	rs267606913

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