ClinVar Miner

Variants in gene ATRX with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP
NM_000489.5(ATRX):c.1438A>G (p.Thr480Ala) rs587780284
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.2001G>A (p.Pro667=) rs139997330
NM_000489.5(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086
NM_000489.5(ATRX):c.39A>G (p.Thr13=) rs1244422748
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.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4249C>T (p.Arg1417Trp) rs1557118764
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.5559C>T (p.His1853=) rs1557096973
NM_000489.5(ATRX):c.6640T>G (p.Leu2214Val) rs782396522
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)
NM_000489.6(ATRX):c.2133T>G (p.Pro711=)
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)

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