List of variants in gene UBE2A reported as likely pathogenic for X-linked disease

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_003336.4(UBE2A):c.242-3_244del	rs2053456972
NM_003336.4(UBE2A):c.299ATG[1] (p.Asp101del)	rs2053457413
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del)	rs1603308066
NM_003336.4(UBE2A):c.330+1G>A	rs2053457643
NM_003336.4(UBE2A):c.330+1del
NM_003336.4(UBE2A):c.373del (p.Gln125fs)	rs1556244406
NM_003336.4(UBE2A):c.421_422del (p.Val141fs)	rs2147382084
NM_003336.4(UBE2A):c.439C>T (p.Gln147Ter)

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