ClinVar Miner

List of variants in gene NAGLU studied for not provided

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Total variants: 89
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HGVS dbSNP
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=)
NM_000263.4(NAGLU):c.1021+120C>T
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=)
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=)
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1322C>G (p.Thr441Arg) rs138695961
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=)
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=)
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) rs375103824
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=)
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.154G>A (p.Val52Met) rs794726880
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)
NM_000263.4(NAGLU):c.159G>A (p.Glu53=)
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=)
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=)
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=)
NM_000263.4(NAGLU):c.18G>A (p.Val6=)
NM_000263.4(NAGLU):c.1941C>A (p.Thr647=)
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573
NM_000263.4(NAGLU):c.1A>G (p.Met1Val) rs1325661354
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
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.282C>T (p.Arg94=)
NM_000263.4(NAGLU):c.29T>G (p.Val10Gly) rs794726879
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.351G>T (p.Val117=)
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) rs796052123
NM_000263.4(NAGLU):c.383+1G>T rs727504028
NM_000263.4(NAGLU):c.383+7C>T
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497
NM_000263.4(NAGLU):c.48C>T (p.Ala16=)
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
NM_000263.4(NAGLU):c.532-239G>C
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000263.4(NAGLU):c.708C>T (p.Phe236=)
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
NM_000263.4(NAGLU):c.764+10C>T
NM_000263.4(NAGLU):c.764+19C>G rs77738617
NM_000263.4(NAGLU):c.771C>T (p.Phe257=)
NM_000263.4(NAGLU):c.780C>T (p.Val260=)
NM_000263.4(NAGLU):c.786C>T (p.Val262=)
NM_000263.4(NAGLU):c.81G>C (p.Arg27=)
NM_000263.4(NAGLU):c.830_832del (p.Cys277del) rs398123282
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu)
NM_000263.4(NAGLU):c.873C>T (p.Ile291=)
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=)
NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg) rs1480640960
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.944dup (p.Asn315fs) rs797044751
NM_000263.4(NAGLU):c.963C>A (p.Ser321=)
NM_000263.4(NAGLU):c.969G>A (p.Glu323=)
NM_000263.4(NAGLU):c.996T>C (p.Thr332=)
NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3]) rs1024697806

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