List of variants in gene combination LOC129992330, SEPSECS reported as uncertain significance for Pontocerebellar hypoplasia type 2D

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.114G>A (p.Lys38=)
NM_016955.4(SEPSECS):c.87G>T (p.Glu29Asp)
NM_016955.4(SEPSECS):c.88C>T (p.His30Tyr)
NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg)	rs1323473750

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