ClinVar Miner

List of variants in gene APTX studied for not specified

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Total variants: 35
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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.-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.-45C>G rs371868908 0.00076
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559 0.00063
NM_001195248.2(APTX):c.-5+1G>T rs146487634 0.00062
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.484-13del rs754565169 0.00051
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001195248.2(APTX):c.-55C>T rs370114338 0.00010
NM_001195248.2(APTX):c.585C>T (p.Tyr195=) rs146506430 0.00005
NM_001195248.2(APTX):c.-5+4328C>T rs992445691 0.00004
NM_001195248.2(APTX):c.429C>T (p.Asn143=) rs767653926 0.00001
NM_001195248.2(APTX):c.734G>A (p.Arg245His) rs747334007 0.00001
NM_001195248.2(APTX):c.-5+10T>C rs1554673544
NM_001195248.2(APTX):c.-5+4231dup rs1201940060
NM_001195248.2(APTX):c.-5+4314A>T rs863223908
NM_001195248.2(APTX):c.-5+4332C>A rs1057522336
NM_001195248.2(APTX):c.337A>G (p.Arg113Gly) rs749562069
NM_001195248.2(APTX):c.484-12T>G rs1981011
NM_001195248.2(APTX):c.484-25_484-3del rs779869639
NM_001195248.2(APTX):c.484-25_484-4del rs778542759
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195248.2(APTX):c.771-20dup rs34600530
NM_001195248.2(APTX):c.874+10G>A rs1260560154
NM_001368995.1(APTX):c.-4-11755C>G rs375155817
NM_001368995.1(APTX):c.-4-11755C>T rs375155817

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