ClinVar Miner

List of variants in gene NAGLU reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_000263.3(NAGLU):c.-138A>G rs76407245
NM_000263.3(NAGLU):c.-144G>A rs538885425
NM_000263.3(NAGLU):c.-167G>T rs145830042
NM_000263.3(NAGLU):c.-200G>C rs114904267
NM_000263.3(NAGLU):c.-212G>C rs538288877
NM_000263.3(NAGLU):c.-228C>G rs554915381
NM_000263.3(NAGLU):c.-271A>G rs369458319
NM_000263.3(NAGLU):c.-275T>C rs567758523
NM_000263.3(NAGLU):c.-78C>G rs886052951
NM_000263.3(NAGLU):c.-81C>T rs189515084
NM_000263.3(NAGLU):c.-82T>C rs886052950
NM_000263.4(NAGLU):c.*198del rs747726415
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817
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.1495C>T (p.Arg499Trp) rs200981229
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) rs886052952
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn) rs375068243
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) rs146456266
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) rs777479452
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592

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