ClinVar Miner

List of variants studied for Seckel syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (18):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	rs182018947	0.00048
NM_001184.4(ATR):c.457T>C (p.Phe153Leu)
NM_001813.3(CENPE):c.4333G>A (p.Asp1445Asn)
NM_001813.3(CENPE):c.5698A>G (p.Thr1900Ala)
NM_018451.5(CENPJ):c.3309dup (p.Pro1104fs)	rs1131691823

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