ClinVar Miner

List of variants reported as pathogenic for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome by OMIM

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Total variants: 3
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NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val) rs768950892
NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs) rs1135401749

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