ClinVar Miner

List of variants in gene GNS reported as uncertain significance for mucopolysaccharidosis type 3D

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_002076.4(GNS):c.*2735C>T rs143396704 0.00233
NM_002076.4(GNS):c.*1681C>G rs142676698 0.00074
NM_002076.4(GNS):c.876-3C>T rs73323465 0.00045
NM_002076.4(GNS):c.*152G>A rs768957003 0.00041
NM_002076.4(GNS):c.*357T>C rs554471490 0.00041
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002076.4(GNS):c.*2301G>A rs141182054 0.00032
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901 0.00028
NM_002076.4(GNS):c.*676A>G rs886049769 0.00025
NM_002076.4(GNS):c.*1759A>G rs540594590 0.00024
NM_002076.4(GNS):c.*2099G>A rs553360517 0.00024
NM_002076.4(GNS):c.5G>C (p.Arg2Pro) rs759075764 0.00016
NM_002076.4(GNS):c.*2612G>T rs533328232 0.00012
NM_002076.4(GNS):c.*2843C>T rs577545481 0.00011
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
NM_002076.4(GNS):c.49C>T (p.Arg17Cys) rs574024349 0.00010
NM_002076.4(GNS):c.*2656G>A rs577212739 0.00009
NM_002076.4(GNS):c.624+10A>G rs757526895 0.00009
NM_002076.4(GNS):c.*3dup rs766104697 0.00008
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.876-13T>C rs543570530 0.00006
NM_002076.4(GNS):c.*2278A>C rs1036841344 0.00005
NM_002076.4(GNS):c.*2844G>A rs534118009 0.00005
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.*2447G>A rs567930294 0.00004
NM_002076.4(GNS):c.*71T>C rs983471422 0.00004
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.*2032T>A rs886049763 0.00003
NM_002076.4(GNS):c.*2560T>G rs886049762 0.00003
NM_002076.4(GNS):c.*2625G>A rs1468841522 0.00003
NM_002076.4(GNS):c.*2783C>T rs573404754 0.00003
NM_002076.4(GNS):c.*425G>A rs141736156 0.00003
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.*2740G>A rs886049761 0.00002
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.285A>G (p.Arg95=) rs545765198 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.*1435G>A rs547333907 0.00001
NM_002076.4(GNS):c.*2571T>C rs995044057 0.00001
NM_002076.4(GNS):c.*2699G>C rs867153534 0.00001
NM_002076.4(GNS):c.*334C>T rs886049771 0.00001
NM_002076.4(GNS):c.*764G>A rs886049767 0.00001
NM_002076.4(GNS):c.*826G>A rs886049766 0.00001
NM_002076.4(GNS):c.*86A>T rs1868866389 0.00001
NM_002076.4(GNS):c.*985A>G rs531715804 0.00001
NM_002076.4(GNS):c.-83G>C rs1290374156 0.00001
NM_002076.4(GNS):c.1104G>T (p.Leu368=) rs766168524 0.00001
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.1261C>T (p.Arg421Cys) rs1177531995 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.337A>G (p.Thr113Ala) rs886049772 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.746A>C (p.Gln249Pro) rs756406058 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.*1580A>G rs886049764
NM_002076.4(GNS):c.*1809T>C rs1868815358
NM_002076.4(GNS):c.*1977A>G rs1868809897
NM_002076.4(GNS):c.*2146G>A rs900823217
NM_002076.4(GNS):c.*2406A>G rs1868795917
NM_002076.4(GNS):c.*2489T>C rs529418480
NM_002076.4(GNS):c.*37G>T rs142001509
NM_002076.4(GNS):c.*574G>A rs886049770
NM_002076.4(GNS):c.*699G>C rs1868848563
NM_002076.4(GNS):c.*734A>G rs886049768
NM_002076.4(GNS):c.*846C>T rs886049765
NM_002076.4(GNS):c.-120A>G rs778270030
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.430A>G (p.Thr144Ala) rs2136249846
NM_002076.4(GNS):c.446A>G (p.Lys149Arg)
NM_002076.4(GNS):c.447A>C (p.Lys149Asn)
NM_002076.4(GNS):c.454A>G (p.Asn152Asp) rs2136249836
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.939T>G (p.Thr313=) rs1869657867
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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