ClinVar Miner

List of variants reported as likely pathogenic for ataxia telangiectasia by Suma Genomics, Suma Genomics

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.3965T>C (p.Leu1322Pro)	rs786203306	0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	rs568461905

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