ClinVar Miner

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

Included ClinVar conditions (97):
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Total variants: 13
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HGVS dbSNP
APTX, IVS7AS, G-A, -1
NC_000009.12:g.(?_32973498)_(33001604_?)del
NM_001195248.2(APTX):c.484-1G>T rs1563963464
NM_001195248.2(APTX):c.602A>G (p.His201Arg) rs121908133
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu) rs121908131
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) rs267606665
NM_001195248.2(APTX):c.689dup (p.Glu232fs) rs587776593
NM_001195248.2(APTX):c.697A>T (p.Lys233Ter) rs1114167423
NM_001195248.2(APTX):c.776del (p.Val259fs) rs1563945076
NM_001195248.2(APTX):c.788T>G (p.Val263Gly) rs121908132
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103
NM_001195248.2(APTX):c.841del (p.Ser281fs) rs587776594
NM_001195248.2(APTX):c.875-2A>G rs904293109

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