ClinVar Miner

List of variants studied for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 by Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades

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Total variants: 11
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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.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) rs762576741 0.00001
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) rs1390685552 0.00001
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala) rs781397040 0.00001
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del) rs1576745248
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) rs866604517
NM_024996.7(GFM1):c.1404del (p.Gly469fs) rs779877297
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) rs1576757241
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) rs143031224
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) rs1576721522

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