ClinVar Miner

Variants in gene NAGLU 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: 7
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HGVS dbSNP
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042

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