ClinVar Miner

List of variants reported as not provided for ataxia telangiectasia by GenomeConnect, ClinGen

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)	rs774281788	0.00001
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg)	rs1573578602

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