List of variants in gene CENPJ, RNF17 studied for Seckel syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.*683dup	rs397718122	0.33944
NM_018451.5(CENPJ):c.594_595dup	rs570468323	0.00658
NM_018451.5(CENPJ):c.*302del	rs138938177
NM_018451.5(CENPJ):c.*305AAG[1]	rs796638364
NM_018451.5(CENPJ):c.*404CT[1]	rs141666267
NM_018451.5(CENPJ):c.*743ACTT[5]	rs543069738
NM_018451.5(CENPJ):c.83_85del	rs747303248
NM_018451.5(CENPJ):c.3704-14_3704-12del	rs34991318

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