ClinVar Miner

List of variants in gene LOC129992330, SEPSECS studied for Pontocerebellar hypoplasia type 2D

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.84T>C (p.His28=)	rs532571185	0.00014
NM_016955.4(SEPSECS):c.114+3A>G
NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg)	rs1323473750

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