List of variants reported as uncertain significance for mucopolysaccharidosis type 3D by Invitae

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

Total variants: 162

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HGVS	dbSNP	gnomAD frequency
NM_002076.4(GNS):c.876-3C>T	rs73323465	0.00045
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)	rs759075764	0.00016
NM_002076.4(GNS):c.49C>T (p.Arg17Cys)	rs574024349	0.00010
NM_002076.4(GNS):c.143A>G (p.Asn48Ser)	rs370011049	0.00008
NM_002076.4(GNS):c.1583A>G (p.Tyr528Cys)	rs138355639	0.00008
NM_002076.4(GNS):c.223G>A (p.Gly75Arg)	rs371990029	0.00008
NM_002076.4(GNS):c.539A>G (p.Lys180Arg)	rs745307029	0.00007
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)	rs202228620	0.00005
NM_002076.4(GNS):c.791C>T (p.Thr264Met)	rs575544204	0.00005
NM_002076.4(GNS):c.1309-12A>G	rs376318831	0.00004
NM_002076.4(GNS):c.311C>T (p.Pro104Leu)	rs1236473511	0.00004
NM_002076.4(GNS):c.325G>A (p.Val109Ile)	rs777717534	0.00004
NM_002076.4(GNS):c.415A>G (p.Met139Val)	rs142588770	0.00004
NM_002076.4(GNS):c.688G>A (p.Ala230Thr)	rs140270805	0.00004
NM_002076.4(GNS):c.886C>G (p.Leu296Val)	rs755801592	0.00004
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)	rs888774422	0.00004
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn)	rs138335335	0.00003
NM_002076.4(GNS):c.676T>G (p.Phe226Val)	rs1283873163	0.00003
NM_002076.4(GNS):c.148G>A (p.Val50Met)	rs776163695	0.00002
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)	rs771940326	0.00002
NM_002076.4(GNS):c.463G>A (p.Gly155Arg)	rs1402191110	0.00002
NM_002076.4(GNS):c.578G>A (p.Arg193Gln)	rs368261202	0.00002
NM_002076.4(GNS):c.895G>A (p.Val299Ile)	rs1327778268	0.00002
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)	rs756633427	0.00001
NM_002076.4(GNS):c.1204G>A (p.Gly402Ser)	rs1364524364	0.00001
NM_002076.4(GNS):c.1251A>G (p.Gln417=)	rs1324161117	0.00001
NM_002076.4(GNS):c.1262G>A (p.Arg421His)	rs774084161	0.00001
NM_002076.4(GNS):c.1321G>A (p.Asp441Asn)	rs1345511245	0.00001
NM_002076.4(GNS):c.1597C>T (p.Arg533Cys)	rs1430079019	0.00001
NM_002076.4(GNS):c.1603A>G (p.Met535Val)	rs1320846022	0.00001
NM_002076.4(GNS):c.160A>G (p.Thr54Ala)	rs768291103	0.00001
NM_002076.4(GNS):c.1616G>A (p.Arg539His)	rs766615352	0.00001
NM_002076.4(GNS):c.1634G>A (p.Arg545Gln)	rs756752200	0.00001
NM_002076.4(GNS):c.1658A>G (p.Ter553Trp)	rs766745346	0.00001
NM_002076.4(GNS):c.531G>T (p.Lys177Asn)	rs1435047831	0.00001
NM_002076.4(GNS):c.653A>G (p.Tyr218Cys)	rs777980972	0.00001
NM_002076.4(GNS):c.682A>G (p.Met228Val)	rs1338194520	0.00001
NM_002076.4(GNS):c.73G>A (p.Ala25Thr)	rs540537083	0.00001
NM_002076.4(GNS):c.850T>C (p.Phe284Leu)	rs978501400	0.00001
NM_002076.4(GNS):c.980A>G (p.Asn327Ser)	rs778927646	0.00001
NC_000012.11:g.(?_65110521)_(65153056_?)dup
NC_000012.12:g.(?_64747692)_(64747938_?)del
NM_002076.4(GNS):c.1008G>C (p.Leu336Phe)
NM_002076.4(GNS):c.1024C>G (p.Gln342Glu)
NM_002076.4(GNS):c.1048G>A (p.Val350Ile)
NM_002076.4(GNS):c.1064G>T (p.Arg355Leu)	rs751200375
NM_002076.4(GNS):c.1070C>T (p.Pro357Leu)
NM_002076.4(GNS):c.1078A>G (p.Lys360Glu)
NM_002076.4(GNS):c.1082C>T (p.Pro361Leu)
NM_002076.4(GNS):c.1091C>T (p.Thr364Ile)
NM_002076.4(GNS):c.1098+3A>G
NM_002076.4(GNS):c.109G>C (p.Val37Leu)
NM_002076.4(GNS):c.1105G>A (p.Val369Ile)
NM_002076.4(GNS):c.1114A>C (p.Ile372Leu)	rs2136240576
NM_002076.4(GNS):c.1120T>A (p.Leu374Met)
NM_002076.4(GNS):c.1127C>G (p.Pro376Arg)
NM_002076.4(GNS):c.1146T>A (p.Ala382=)	rs2136240550
NM_002076.4(GNS):c.115G>A (p.Gly39Arg)
NM_002076.4(GNS):c.1160A>G (p.Asn387Ser)
NM_002076.4(GNS):c.1161T>G (p.Asn387Lys)	rs2136240532
NM_002076.4(GNS):c.1166C>T (p.Thr389Ile)	rs944030718
NM_002076.4(GNS):c.1200+5_1200+7del	rs2136240506
NM_002076.4(GNS):c.1201A>G (p.Arg401Gly)
NM_002076.4(GNS):c.1229C>T (p.Ser410Leu)
NM_002076.4(GNS):c.1231G>C (p.Asp411His)
NM_002076.4(GNS):c.1232A>C (p.Asp411Ala)
NM_002076.4(GNS):c.1234G>A (p.Val412Ile)
NM_002076.4(GNS):c.1264A>G (p.Asn422Asp)
NM_002076.4(GNS):c.1267G>A (p.Val423Ile)
NM_002076.4(GNS):c.1309-6C>G	rs1592491918
NM_002076.4(GNS):c.1309-8C>A
NM_002076.4(GNS):c.1311A>G (p.Gln437=)
NM_002076.4(GNS):c.1323C>G (p.Asp441Glu)
NM_002076.4(GNS):c.1325G>A (p.Cys442Tyr)
NM_002076.4(GNS):c.1327G>A (p.Val443Ile)
NM_002076.4(GNS):c.1370C>T (p.Thr457Ile)	rs2136237284
NM_002076.4(GNS):c.1375T>G (p.Ser459Ala)
NM_002076.4(GNS):c.138G>T (p.Arg46Ser)
NM_002076.4(GNS):c.140C>T (p.Pro47Leu)
NM_002076.4(GNS):c.1424T>C (p.Phe475Ser)
NM_002076.4(GNS):c.142A>C (p.Asn48His)
NM_002076.4(GNS):c.1433T>G (p.Val478Gly)
NM_002076.4(GNS):c.1448C>A (p.Ala483Glu)	rs1163229693
NM_002076.4(GNS):c.145G>C (p.Val49Leu)
NM_002076.4(GNS):c.1471A>G (p.Ile491Val)
NM_002076.4(GNS):c.1516C>T (p.Arg506Trp)
NM_002076.4(GNS):c.1535C>T (p.Ser512Phe)
NM_002076.4(GNS):c.1537T>G (p.Cys513Gly)
NM_002076.4(GNS):c.1554T>A (p.Cys518Ter)
NM_002076.4(GNS):c.1555C>T (p.Arg519Cys)
NM_002076.4(GNS):c.1556G>A (p.Arg519His)
NM_002076.4(GNS):c.1571T>C (p.Phe524Ser)
NM_002076.4(GNS):c.1581-1G>A	rs1868873740
NM_002076.4(GNS):c.1585A>G (p.Arg529Gly)
NM_002076.4(GNS):c.1594C>T (p.Pro532Ser)
NM_002076.4(GNS):c.1600C>T (p.Leu534Phe)
NM_002076.4(GNS):c.1609A>C (p.Ser537Arg)	rs776925981
NM_002076.4(GNS):c.1609A>G (p.Ser537Gly)
NM_002076.4(GNS):c.1621A>G (p.Ser541Gly)
NM_002076.4(GNS):c.1627A>G (p.Arg543Gly)	rs763232728
NM_002076.4(GNS):c.1633C>T (p.Arg545Ter)
NM_002076.4(GNS):c.1652T>C (p.Leu551Pro)
NM_002076.4(GNS):c.16C>G (p.Leu6Val)	rs746189087
NM_002076.4(GNS):c.181C>T (p.Leu61Phe)
NM_002076.4(GNS):c.187G>T (p.Gly63Cys)
NM_002076.4(GNS):c.215C>G (p.Ala72Gly)
NM_002076.4(GNS):c.222C>G (p.Ile74Met)
NM_002076.4(GNS):c.227A>G (p.Glu76Gly)
NM_002076.4(GNS):c.229A>G (p.Met77Val)	rs763723151
NM_002076.4(GNS):c.254A>G (p.Tyr85Cys)
NM_002076.4(GNS):c.285A>T (p.Arg95Ser)
NM_002076.4(GNS):c.322C>T (p.His108Tyr)
NM_002076.4(GNS):c.333C>G (p.Asn111Lys)
NM_002076.4(GNS):c.34C>T (p.Arg12Trp)
NM_002076.4(GNS):c.359G>A (p.Ser120Asn)
NM_002076.4(GNS):c.35G>A (p.Arg12Gln)
NM_002076.4(GNS):c.361A>G (p.Lys121Glu)
NM_002076.4(GNS):c.365C>G (p.Ser122Cys)
NM_002076.4(GNS):c.386C>G (p.Pro129Arg)
NM_002076.4(GNS):c.389A>G (p.Asn130Ser)
NM_002076.4(GNS):c.391A>T (p.Thr131Ser)
NM_002076.4(GNS):c.400G>A (p.Ala134Thr)
NM_002076.4(GNS):c.446A>G (p.Lys149Arg)
NM_002076.4(GNS):c.472G>A (p.Asp158Asn)
NM_002076.4(GNS):c.493G>A (p.Val165Ile)
NM_002076.4(GNS):c.525G>A (p.Leu175=)	rs2136248840
NM_002076.4(GNS):c.554C>A (p.Thr185Asn)
NM_002076.4(GNS):c.587G>A (p.Gly196Asp)
NM_002076.4(GNS):c.596A>G (p.Tyr199Cys)
NM_002076.4(GNS):c.605A>G (p.Asp202Gly)	rs1439386150
NM_002076.4(GNS):c.605A>T (p.Asp202Val)	rs1439386150
NM_002076.4(GNS):c.640G>T (p.Asp214Tyr)
NM_002076.4(GNS):c.650A>G (p.Asp217Gly)
NM_002076.4(GNS):c.679A>C (p.Met227Leu)	rs901034074
NM_002076.4(GNS):c.694C>T (p.Pro232Ser)
NM_002076.4(GNS):c.698C>T (p.Ala233Val)	rs766044815
NM_002076.4(GNS):c.707C>T (p.Ser236Leu)	rs769055154
NM_002076.4(GNS):c.70C>G (p.Pro24Ala)
NM_002076.4(GNS):c.710C>T (p.Pro237Leu)
NM_002076.4(GNS):c.739G>A (p.Ala247Thr)
NM_002076.4(GNS):c.744C>G (p.Phe248Leu)
NM_002076.4(GNS):c.760C>A (p.Pro254Thr)
NM_002076.4(GNS):c.76C>G (p.Leu26Val)
NM_002076.4(GNS):c.770A>C (p.Lys257Thr)
NM_002076.4(GNS):c.779A>G (p.Asn260Ser)	rs2136247542
NM_002076.4(GNS):c.787G>C (p.Gly263Arg)
NM_002076.4(GNS):c.812G>A (p.Arg271Lys)
NM_002076.4(GNS):c.859A>G (p.Asn287Asp)
NM_002076.4(GNS):c.85C>G (p.Leu29Val)
NM_002076.4(GNS):c.882A>C (p.Gln294His)
NM_002076.4(GNS):c.896T>C (p.Val299Ala)
NM_002076.4(GNS):c.911A>G (p.Glu304Gly)
NM_002076.4(GNS):c.916C>A (p.Leu306Met)
NM_002076.4(GNS):c.916C>G (p.Leu306Val)
NM_002076.4(GNS):c.923A>G (p.Lys308Arg)	rs1168212943
NM_002076.4(GNS):c.926G>A (p.Arg309Lys)
NM_002076.4(GNS):c.940G>A (p.Gly314Arg)
NM_002076.4(GNS):c.950A>G (p.Asn317Ser)	rs2136245502
NM_002076.4(GNS):c.961A>G (p.Ile321Val)
NM_002076.4(GNS):c.986A>G (p.Tyr329Cys)	rs1338188022
NM_002076.4(GNS):c.994+20A>G
NM_002076.4(GNS):c.995-9T>A	rs2136244474

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