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

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Total variants: 6

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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.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_024996.7(GFM1):c.1765-2_1765-1del	rs1245712932
NM_024996.7(GFM1):c.817dup (p.Ile273fs)

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