List of variants in gene APTX reported as uncertain significance for autosomal recessive disease

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001195248.2(APTX):c.*806G>A	rs113556331	0.00570
NM_001195248.2(APTX):c.134-12A>C	rs113391831	0.00057
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)	rs144076460	0.00042
NM_001195248.2(APTX):c.*834C>G	rs770908697	0.00032
NM_001195248.2(APTX):c.*858C>G	rs772290850	0.00031
NM_001195248.2(APTX):c.*605G>A	rs545625482	0.00006
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)	rs117041645	0.00006
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)	rs142133683	0.00004
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)	rs886063858	0.00003
NM_001195248.2(APTX):c.742T>C (p.Leu248=)	rs141195622

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