List of variants in gene ATRX reported as pathogenic by Eurofins NTD LLC (GA)

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

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.134-2A>G	rs398123420
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter)	rs886044898
NM_000489.6(ATRX):c.189+1G>A	rs398123422
NM_000489.6(ATRX):c.463_474delinsT (p.Thr154_Glu155insTer)	rs398123424
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	rs398123425
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	rs122445099
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	rs122445105
NM_000489.6(ATRX):c.7394del (p.Gly2465fs)	rs398123428

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