List of variants studied for ATR-X-related syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00663
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)	rs201284965	0.00015
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)	rs1060499760
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter)	rs2071372283
NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn)	rs886044896
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)	rs782630348
NM_000489.6(ATRX):c.4957-4A>G	rs1602979818
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	rs398123425
NM_000489.6(ATRX):c.565C>T (p.His189Tyr)	rs2148656473
NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val)	rs2066171841
NM_000489.6(ATRX):c.7205del (p.Ile2402fs)	rs1569513017
NM_000489.6(ATRX):c.796T>C (p.Tyr266His)	rs2071441898

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