List of variants in gene NAGLU reported as uncertain significance for Mucopolysaccharidosis, MPS-III-B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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HGVS	dbSNP	gnomAD frequency
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)	rs112751577	0.00237
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)	rs151013014	0.00190
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)	rs147293270	0.00087
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)	rs115994665	0.00063
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)	rs530062090	0.00056
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)	rs114687267	0.00048
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)	rs371656965	0.00041
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)	rs150905331	0.00040
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)	rs146715254	0.00029
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)	rs115401566	0.00021
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)	rs140956564	0.00017
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)	rs146456266	0.00017
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)	rs368521316	0.00016
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)	rs559674042	0.00016
NM_000263.4(NAGLU):c.678+4A>G	rs368199655	0.00016
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)	rs115550028	0.00015
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp)	rs200981229	0.00015
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)	rs375661192	0.00015
NM_000263.4(NAGLU):c.723G>A (p.Val241=)	rs140945842	0.00010
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)	rs202115696	0.00009
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met)	rs777479452	0.00009
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)	rs369789056	0.00008
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)	rs200715586	0.00006
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn)	rs375068243	0.00005
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)	rs539019626	0.00005
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)	rs368687817	0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)	rs147036053	0.00004
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)	rs144807822	0.00004
NM_000263.4(NAGLU):c.383+7C>T	rs768602711	0.00004
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)	rs375458666	0.00004
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)	rs376545731	0.00003
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)	rs774971794	0.00003
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)	rs141018386	0.00003
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)	rs144771528	0.00003
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)	rs143938936	0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	rs104894595	0.00002
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)	rs768918822	0.00001
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)	rs754413995	0.00001
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro)	rs1432587285	0.00001
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)	rs767179184	0.00001
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)	rs868244206	0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)	rs569519789	0.00001
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)	rs1300652650	0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)	rs537078152	0.00001
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)	rs764446533	0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)	rs780527821	0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)	rs1215582852	0.00001
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu)	rs753670246	0.00001
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)	rs774918711	0.00001
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)	rs146582131	0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)	rs752527478	0.00001
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)	rs750741772	0.00001
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)	rs904118831	0.00001
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)	rs367604063	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.*174A>G	rs896549130
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)	rs749140168
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)	rs1599260473
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del)	rs1555622266
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)	rs574688121
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)	rs764815033
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile)	rs886493431
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)	rs114625063
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn)	rs1555622346
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)	rs200909691
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser)	rs1599261339
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)	rs146438251
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)	rs104894598
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val)	rs886052952
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)	rs759978970
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe)	rs1555622482
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)	rs104894593
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His)	rs1599262171
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)	rs1341421909
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly)	rs2143115890
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)	rs1364203992
NM_000263.4(NAGLU):c.2123_2205del (p.Phe708fs)
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser)	rs2092930793
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)	rs1555622589
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)	rs1216052074
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)	rs749371796
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)	rs1555622606
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)	rs1240470839
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del)	rs1555621469
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe)	rs886043785
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)	rs1555621579
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)	rs770684838
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu)	rs1238423614
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del)	rs1555621605
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)	rs747155746
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)	rs115888189

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