ClinVar Miner

List of variants in gene APTX reported as likely benign for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_001195248.2(APTX):c.-5+16G>T rs145658621 0.00564
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.*293C>G rs532688347 0.00070
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001195248.2(APTX):c.*851_*852del rs377365362
NM_001195248.2(APTX):c.484-13_484-12delinsTG rs1064794547
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711

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