List of variants reported as pathogenic for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 by Baylor Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_024996.7(GFM1):c.720del (p.Glu241fs)	rs745718158	0.00004
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)	rs119470019	0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	rs1004779078	0.00002
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)	rs780762234	0.00002
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	rs766234016	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)	rs757691557
NM_024996.7(GFM1):c.1404del (p.Gly469fs)	rs779877297
NM_024996.7(GFM1):c.1765-2_1765-1del	rs1245712932
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)	rs62286651
NM_024996.7(GFM1):c.539del (p.Gly180fs)	rs1362847020
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
NM_024996.7(GFM1):c.914del (p.Gly305fs)

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