List of variants in gene APTX reported as uncertain significance 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)	rs141493373	0.00120
NM_001195248.2(APTX):c.875-3C>T	rs759989689	0.00018
NM_001195248.2(APTX):c.191A>G (p.Asn64Ser)	rs142032370	0.00006
NM_001195248.2(APTX):c.946C>T (p.Pro316Ser)	rs754791634	0.00005
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)	rs142133683	0.00004
NM_001195248.2(APTX):c.102G>C (p.Lys34Asn)	rs181835582	0.00003
NM_001195248.2(APTX):c.-5+6G>A	rs1836526475
NM_001195248.2(APTX):c.164A>G (p.Tyr55Cys)	rs1057519198
NM_001195248.2(APTX):c.505C>G (p.Gln169Glu)
NM_001195248.2(APTX):c.899C>T (p.Ala300Val)	rs1018257998

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