List of variants reported as likely pathogenic for CEDNIK syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	rs886041240	0.00001
NM_004782.4(SNAP29):c.253C>T (p.Arg85Ter)
NM_004782.4(SNAP29):c.265G>T (p.Glu89Ter)
NM_004782.4(SNAP29):c.586C>T (p.Arg196Ter)
NM_004782.4(SNAP29):c.620-1G>C

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