List of variants in gene APTX reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)	rs34778324	0.00568
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)	rs141195622	0.00183
NM_001195248.2(APTX):c.513G>A (p.Leu171=)	rs140888559	0.00063
NM_001195248.2(APTX):c.441C>T (p.Cys147=)
NM_001195248.2(APTX):c.720G>A (p.Gly240=)	rs2489448574

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