ClinVar Miner

List of variants reported as pathogenic for Nijmegen breakage syndrome-like disorder by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter)	rs786203485	0.00003
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter)	rs761837416	0.00002
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)	rs397507178

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