ClinVar Miner

List of variants studied for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016030.6(TRAPPC12):c.496C>A (p.Arg166Ser) rs758495770 0.00020
NM_016030.6(TRAPPC12):c.1597A>G (p.Arg533Gly) rs200774577 0.00004
NM_016030.6(TRAPPC12):c.1604-1G>T rs375354960 0.00001
NM_016030.6(TRAPPC12):c.641C>T (p.Ala214Val) rs1318353446

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