ClinVar Miner

List of variants reported as uncertain significance for ataxia telangiectasia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (6):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser)	rs777301065	0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)	rs758908522	0.00001

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