List of variants reported as likely pathogenic for Combined oxidative phosphorylation defect type 21 by Houlden Lab, UCL Institute of Neurology

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys)	rs749476185	0.00001
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln)	rs760526545	0.00001
NM_025150.5(TARS2):c.387+6T>C	rs1064797119	0.00001
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
NM_025150.5(TARS2):c.1255C>T (p.Arg419Trp)
NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys)
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)	rs1322913410
NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr)	rs1064797120
NM_025150.5(TARS2):c.388-1G>C	rs2102476204
NM_025150.5(TARS2):c.464C>T (p.Pro155Leu)
NM_025150.5(TARS2):c.774+5G>T
NM_025150.5(TARS2):c.980G>A (p.Arg327Gln)

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