List of variants in gene APTX reported as uncertain significance for ataxia-telangiectasia-like disorder

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)	rs141195622	0.00183
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)	rs141493373	0.00120
NM_001195248.2(APTX):c.-45C>G	rs371868908	0.00076
NM_001195248.2(APTX):c.513G>A (p.Leu171=)	rs140888559	0.00063
NM_001195248.2(APTX):c.134-12A>C	rs113391831	0.00057
NM_001195248.2(APTX):c.770+10G>T	rs111392103	0.00054
NM_001195248.2(APTX):c.*636C>T	rs530692252	0.00043
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)	rs144076460	0.00042
NM_001195248.2(APTX):c.*858C>G	rs772290850	0.00031
NM_001195248.2(APTX):c.*476C>T	rs754188583	0.00023
NM_001195248.2(APTX):c.183A>G (p.Val61=)	rs150506419	0.00019
NM_001195248.2(APTX):c.544-4C>T	rs201736194	0.00009
NM_001195248.2(APTX):c.*610G>C	rs775131687	0.00007
NM_001195248.2(APTX):c.*605G>A	rs545625482	0.00006
NM_001195248.2(APTX):c.771-5A>G	rs751250105	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.773A>G (p.His258Arg)	rs763987865	0.00003
NM_001195248.2(APTX):c.38G>A (p.Arg13Gln)	rs373640152	0.00002
NM_001195248.2(APTX):c.*363C>T	rs886063857	0.00001
NM_001195248.2(APTX):c.496C>T (p.His166Tyr)	rs750945018	0.00001
NM_001195248.2(APTX):c.*215G>C	rs568783017
NM_001195248.2(APTX):c.*310G>A	rs563055303
NM_001195248.2(APTX):c.-5+4337A>G	rs1033863870
NM_001195248.2(APTX):c.3G>A (p.Met1Ile)	rs1159850178
NM_001195248.2(APTX):c.618G>T (p.Pro206=)	rs140355580
NM_001195248.2(APTX):c.742T>C (p.Leu248=)	rs141195622
NM_001195248.2(APTX):c.853G>A (p.Glu285Lys)	rs1828846033
NM_001195248.2(APTX):c.854A>G (p.Glu285Gly)	rs768982333
NM_001195248.2(APTX):c.874+14C>G	rs751303502
NM_001368995.1(APTX):c.-4-11748C>T	rs1258044372

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