List of variants reported as likely pathogenic for Stromme syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter)	rs375014198	0.00008
NM_016343.4(CENPF):c.7219C>T (p.Arg2407Ter)	rs376076886	0.00004
NM_016343.4(CENPF):c.2983C>T (p.Gln995Ter)
NM_016343.4(CENPF):c.3614_3617del (p.Ser1205fs)
NM_016343.4(CENPF):c.4986+1G>C
NM_016343.4(CENPF):c.8161-1G>A

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