List of variants studied for Pontocerebellar hypoplasia type 2D by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)	rs781277383
NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu)
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter)	rs1712612053
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)	rs776438003

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