ClinVar Miner

List of variants in gene combination LOC112533671, TSEN54 reported as uncertain significance for Pontoneocerebellar hypoplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.13C>T (p.Pro5Ser)	rs886053394
NM_207346.3(TSEN54):c.16G>C (p.Glu6Gln)	rs1377971286

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