ClinVar Miner

List of variants in gene ATRX reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_000489.5(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.5(ATRX):c.1386T>C (p.Ala462=) rs367596462
NM_000489.5(ATRX):c.1438A>G (p.Thr480Ala) rs587780284
NM_000489.5(ATRX):c.2104A>G (p.Asn702Asp) rs1557140316
NM_000489.5(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.5(ATRX):c.2522T>C (p.Ile841Thr) rs797045405
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3513A>T (p.Arg1171Ser) rs868995055
NM_000489.5(ATRX):c.3794A>G (p.Asn1265Ser) rs371187842
NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.5(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.6871A>G (p.Ile2291Val) rs374244026
NM_000489.5(ATRX):c.838T>C (p.Cys280Arg) rs797045408
NM_000489.5(ATRX):c.88G>C (p.Glu30Gln) rs1427263828
NM_000489.5(ATRX):c.927_929dup (p.Glu310_His311insAsp) rs1557142576
NM_000489.5(ATRX):c.983A>G (p.Glu328Gly) rs1557142526

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