ClinVar Miner

List of variants studied for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016030.6(TRAPPC12):c.1603+5G>C rs747491323 0.00001
NM_016030.6(TRAPPC12):c.2090T>C (p.Leu697Pro) rs1277040737 0.00001
NM_001144869.3(LIPT2):c.326G>A (p.Gly109Asp) rs562535449
NM_016030.6(TRAPPC12):c.1678-2A>G rs2528802018
NM_016030.6(TRAPPC12):c.195_196del (p.Met66fs) rs1200912683
NM_016030.6(TRAPPC12):c.681T>A (p.Phe227Leu)

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