List of variants in gene ATRX reported as pathogenic for obsolete Holmes-Gang syndrome

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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: 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.399_400dup (p.Leu134fs)
NM_000489.6(ATRX):c.477del (p.Lys159fs)	rs1603240572
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	rs398123425
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)	rs122445101
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)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	rs122445105
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu)	rs2148637532

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