List of variants reported as pathogenic for Intellectual disability-hypotonic facies syndrome, X-linked, 1

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)	rs122445108
NM_000489.6(ATRX):c.134-4884_242+41del
NM_000489.6(ATRX):c.371-1201G>A	rs2520135479
NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)	rs2520122502
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)	rs1135401793
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	rs398123425
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)	rs1057517707
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	rs122445099
NM_000489.6(ATRX):c.7366dup (p.Met2456fs)	rs2519899305
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	rs122445105
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu)	rs2148637532

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