ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu) rs34634937 0.00350
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
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.762G>A (p.Pro254=) rs571475924 0.00011
NM_001195248.2(APTX):c.484-25_484-3del rs779869639
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-25_484-9del rs749477339
NM_001195248.2(APTX):c.484-3del rs373304582

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