ClinVar Miner

List of variants in gene GLB1 studied for GM1 gangliosidosis

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Total variants: 82
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HGVS dbSNP gnomAD frequency
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.458-11T>C rs34204221 0.10591
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_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.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.1733A>G (p.Lys578Arg) rs371582179 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.734-8A>G rs398123357 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.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala) rs779023917 0.00002
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp) rs747709527 0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886 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.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 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.699del (p.Gln234fs) rs1452318343 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) rs368568171 0.00001
NM_000404.4(GLB1):c.*194C>A rs886058340
NM_000404.4(GLB1):c.*39C>T rs1696328310
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1254C>G (p.Tyr418Ter) rs1697338499
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1603C>G (p.His535Asp) rs886058341
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1735-15TC[7] rs745361874
NM_000404.4(GLB1):c.1837_1838del (p.Pro613fs) rs1696345066
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.380G>A (p.Cys127Tyr) rs1699791081
NM_000404.4(GLB1):c.390G>A (p.Trp130Ter) rs2125548643
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.574T>C (p.Tyr192His) rs1408171481
NM_000404.4(GLB1):c.711C>T (p.Tyr237=) rs757982518
NM_000404.4(GLB1):c.733+6T>C
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) rs767704163
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala) rs1575445193

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