List of variants reported as likely pathogenic for CEDNIK syndrome

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	rs886041240	0.00001
NC_000022.11:g.(?_21213348)_(21242174_?)del
NM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr)	rs775445020
NM_004782.4(SNAP29):c.223del (p.Val75fs)	rs869312906
NM_004782.4(SNAP29):c.253C>T (p.Arg85Ter)
NM_004782.4(SNAP29):c.265G>T (p.Glu89Ter)
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	rs751575036
NM_004782.4(SNAP29):c.586C>T (p.Arg196Ter)
NM_004782.4(SNAP29):c.620-1G>C

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