ClinVar Miner

List of variants in gene APTX reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
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.742T>A (p.Leu248Met) rs141195622 0.00183
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.770+10G>T rs111392103 0.00054
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001195248.2(APTX):c.181G>A (p.Val61Ile) rs755448350 0.00016
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001195248.2(APTX):c.191A>G (p.Asn64Ser) rs142032370 0.00006
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001195248.2(APTX):c.396T>A (p.Ala132=) rs753537901 0.00002
NM_001195248.2(APTX):c.710A>G (p.Asp237Gly) rs749338153 0.00002
NM_001195248.2(APTX):c.86G>A (p.Arg29His) rs766690500 0.00002
NM_001195248.2(APTX):c.593C>T (p.Ala198Val) rs748165574 0.00001
NM_001195248.2(APTX):c.1003C>T (p.His335Tyr) rs1828537508
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.491T>C (p.Leu164Pro) rs1367238962
NM_001195248.2(APTX):c.506_507insCTGG (p.Gln169fs) rs1587449274
NM_001195248.2(APTX):c.686del (p.Thr229fs) rs1587435802
NM_001195248.2(APTX):c.719G>T (p.Gly240Val)
NM_001195248.2(APTX):c.779A>G (p.His260Arg) rs1324748344
NM_001195248.2(APTX):c.873A>G (p.Gln291=)
NM_001195248.2(APTX):c.874+10G>A rs1260560154

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