ClinVar Miner

Variants in gene NAGLU with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073

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