ClinVar Miner

Variants in gene APTX with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.*187G>C rs113638548 0.00570
NM_001195248.2(APTX):c.*606G>A rs111430445 0.00567
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.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001195248.2(APTX):c.771-5A>G rs751250105 0.00006
NM_001195248.2(APTX):c.734G>A (p.Arg245His) rs747334007 0.00001
NM_001195248.2(APTX):c.484-25_484-10del rs774597262

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