List of variants in gene CENPJ reported as pathogenic for Seckel syndrome 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)	rs797045450	0.00001
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter)	rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs)	rs777893196
NM_018451.5(CENPJ):c.1434del (p.Lys479fs)	rs1954548327
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs)	rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs)	rs797045449
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs)	rs797045452
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs)	rs797045454

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