List of variants reported as pathogenic for Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001846.4(COL4A2):c.549+5G>A	rs886049969
NM_144772.3(NAXE):c.128C>A (p.Ser43Ter)	rs765587923
NM_144772.3(NAXE):c.229del (p.Gln77fs)	rs2102489197
NM_144772.3(NAXE):c.262G>T (p.Gly88Trp)	rs2102489248
NM_144772.3(NAXE):c.326dup (p.Thr110fs)	rs779820587
NM_144772.3(NAXE):c.536dup (p.Tyr180fs)	rs1677397982
NM_144772.3(NAXE):c.565G>A (p.Gly189Ser)	rs1677398842
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)	rs886041062

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