ClinVar Miner

List of variants in gene APTX reported as pathogenic by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu) rs121908131 0.00001
NM_001195248.2(APTX):c.689dup (p.Glu232fs) rs587776593 0.00001
NC_000009.12:g.(?_32973498)_(33001604_?)del
NM_001195248.2(APTX):c.602A>G (p.His201Arg) rs121908133
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) rs267606665
NM_001195248.2(APTX):c.788T>G (p.Val263Gly) rs121908132
NM_001195248.2(APTX):c.841del (p.Ser281fs) rs587776594
NM_001195248.2(APTX):c.875-1G>A rs1587330671

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