List of variants reported as uncertain significance for Combined oxidative phosphorylation defect type 13

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)	rs34928857	0.00131
NM_033109.5(PNPT1):c.412A>G (p.Ile138Val)	rs76401964	0.00111
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)	rs149843729	0.00038
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)	rs202190573	0.00010
NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala)	rs377657203	0.00003
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr)	rs774425075	0.00001
NM_033109.5(PNPT1):c.1528G>A (p.Ala510Thr)
NM_033109.5(PNPT1):c.1823-6T>A
NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val)	rs144252007
NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala)	rs750110394
NM_033109.5(PNPT1):c.496G>A (p.Asp166Asn)	rs2104157202

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