ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-IV-B

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000404.4(GLB1):c.955+60A>G rs12632196 0.75289
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_000404.4(GLB1):c.*354T>C rs12167 0.21789
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000404.4(GLB1):c.76-4426C>T rs9865342 0.11155
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_000404.4(GLB1):c.734-112T>C rs80059915 0.07289
NM_000404.4(GLB1):c.734-80G>A rs75639377 0.05351
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000404.4(GLB1):c.*319G>A rs139730198 0.00851
NM_000404.4(GLB1):c.*376C>G rs147437116 0.00659
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00547
NM_000404.4(GLB1):c.*184G>A rs143430374 0.00483
NM_000404.4(GLB1):c.*182A>G rs76762176 0.00393
NM_000404.4(GLB1):c.*423A>G rs79603348 0.00153
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127 0.00145
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209 0.00106
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_001039770.3(TMPPE):c.-500C>G rs368944274 0.00037
NM_000404.4(GLB1):c.1347+10G>A rs199538100 0.00028
NM_000404.4(GLB1):c.1530G>A (p.Thr510=) rs191203702 0.00025
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666 0.00023
NM_000404.4(GLB1):c.75+2dup rs587776525 0.00021
NM_000404.4(GLB1):c.1234-11T>A rs145674318 0.00020
NM_000404.4(GLB1):c.1095C>T (p.Ile365=) rs200762972 0.00015
NM_000404.4(GLB1):c.1479+11C>T rs369789589 0.00015
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947 0.00013
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000404.4(GLB1):c.1562G>A (p.Cys521Tyr) rs186781398 0.00011
NM_000404.4(GLB1):c.1480-8C>G rs753129246 0.00010
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met) rs1803198 0.00010
NM_000404.4(GLB1):c.1601A>G (p.His534Arg) rs770982909 0.00008
NM_000404.4(GLB1):c.*44C>T rs199659949 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys) rs766214522 0.00006
NM_000404.4(GLB1):c.1069-4A>G rs781267265 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000404.4(GLB1):c.*224G>T rs557844974 0.00004
NM_000404.4(GLB1):c.1348-7C>T rs774732235 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000404.4(GLB1):c.2016A>G (p.Ser672=) rs756403702 0.00003
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr) rs772539129 0.00003
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.1568A>G (p.His523Arg) rs1175119240 0.00002
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter) rs769781778 0.00002
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly) rs767685019 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880 0.00001
NM_000404.4(GLB1):c.553-8A>G rs886058342 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.818G>T (p.Trp273Leu) rs72555362 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_001039770.3(TMPPE):c.-523G>C rs529551028 0.00001
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
NM_000404.4(GLB1):c.*194C>A rs886058340
NM_000404.4(GLB1):c.*39C>T rs1696328310
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1233+91G>C rs2125474421
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) rs72555363
NM_000404.4(GLB1):c.1598_1601dup (p.His534fs) rs1304277420
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr) rs2125463098
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln) rs199694629
NM_000404.4(GLB1):c.247T>C (p.Tyr83His) rs72555364
NM_000404.4(GLB1):c.253C>T (p.Pro85Ser)
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys) rs767916019
NM_000404.4(GLB1):c.376A>G (p.Ile126Val) rs886058343
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.711C>T (p.Tyr237=) rs757982518
NM_000404.4(GLB1):c.733+2T>C rs1699291583
NM_000404.4(GLB1):c.733+78A>G rs77452319
NM_000404.4(GLB1):c.734-99G>T rs72856120
NM_000404.4(GLB1):c.75+2T>G rs2125591484
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.821T>C (p.Leu274Pro) rs1699012933
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys) rs370107958
NM_001039770.3(TMPPE):c.-492C>T rs1233290104
NM_001039770.3(TMPPE):c.-512C>G rs115554377
Single allele

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