List of variants in gene APTX studied for APTX-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001195248.2(APTX):c.596G>A (p.Arg199His)	rs150886026	0.00552
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)	rs141493373	0.00118
NM_001195248.2(APTX):c.-45C>G	rs371868908	0.00065
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)	rs104894103	0.00044
NM_001195248.2(APTX):c.544-4C>T	rs201736194	0.00009
NM_001195248.2(APTX):c.484-25_484-9del	rs749477339
NM_001195248.2(APTX):c.484-26_484-3del	rs1464865878

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