List of variants in gene APTX reported as likely pathogenic for DNA repair 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)	rs201912053	0.00002
NM_001195248.2(APTX):c.388C>T (p.Gln130Ter)	rs1225927323	0.00001
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter)	rs1015321377	0.00001
NM_001195248.2(APTX):c.593C>T (p.Ala198Val)	rs748165574	0.00001
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro)	rs267606665
NM_001195248.2(APTX):c.729del (p.Lys243fs)

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