List of variants in gene ATRX reported as uncertain significance for Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)	rs782553301	0.00007
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)	rs199543136	0.00005
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)	rs1064796812	0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)	rs782274478	0.00002
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)	rs929951326	0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)	rs797044792	0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)	rs143621153	0.00001
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
NM_000489.6(ATRX):c.2360G>C (p.Gly787Ala)
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn)	rs1603220590
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val)	rs1569538741
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)	rs1569536694
NM_000489.6(ATRX):c.4216T>C (p.Ser1406Pro)
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del)	rs1356648720
NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)

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