List of variants studied for Stromme syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_016343.4(CENPF):c.9081C>T (p.Leu3027=)	rs74557452	0.01439
NM_016343.4(CENPF):c.4355A>G (p.Asn1452Ser)	rs140952090	0.00041
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln)	rs535739714	0.00004
NM_016343.4(CENPF):c.1241G>A (p.Cys414Tyr)
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter)	rs367624766
NM_016343.4(CENPF):c.2186C>T (p.Thr729Ile)	rs1028498197
NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)
NM_016343.4(CENPF):c.6046C>G (p.Leu2016Val)
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)	rs786205697
NM_016343.4(CENPF):c.9227C>A (p.Pro3076His)

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