List of variants studied for ATR-X-related syndrome by Baylor Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg)	rs1411348345	0.00003
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr)	rs1557140828	0.00001
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)	rs122445108
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val)	rs1557142145
NM_000489.6(ATRX):c.1655C>G (p.Thr552Ser)	rs2071378519
NM_000489.6(ATRX):c.2323G>C (p.Asp775His)	rs2071322741
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=)	rs1569535642
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe)	rs1602995714
NM_000489.6(ATRX):c.477del (p.Lys159fs)	rs1603240572
NM_000489.6(ATRX):c.485-7C>A	rs1225852818
NM_000489.6(ATRX):c.5449-7A>G	rs2067371776
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)	rs1057518708
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu)	rs2071445748
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)

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