ClinVar Miner

List of variants in gene GALNS studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1242+149G>A rs747232 0.38901
NM_000512.5(GALNS):c.633+125A>G rs2269334 0.38828
NM_000512.5(GALNS):c.759-90A>T rs11076721 0.38707
NM_000512.5(GALNS):c.633+138C>A rs2269335 0.37886
NM_000512.5(GALNS):c.1003-170T>C rs3743546 0.34189
NM_000512.5(GALNS):c.633+91T>C rs2269333 0.34085
NM_000512.5(GALNS):c.1139+97G>C rs3859024 0.33633
NM_000512.5(GALNS):c.423-627T>C rs7205379 0.32533
NM_000512.5(GALNS):c.567-105T>C rs12444543 0.28239
NM_000512.5(GALNS):c.566+234G>T rs3784884 0.28028
NM_000512.5(GALNS):c.566+134G>A rs3784883 0.25805
NM_000512.5(GALNS):c.567-145A>G rs11076722 0.25062
NM_000512.5(GALNS):c.567-148C>A rs11076723 0.25040
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_000512.5(GALNS):c.423-901T>C rs897958 0.23810
NM_000512.5(GALNS):c.244+86G>A rs71395332 0.20954
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000512.5(GALNS):c.1483-32G>C rs11076716 0.19802
NM_000512.5(GALNS):c.899-277G>A rs8050636 0.13495
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_000512.5(GALNS):c.634-130T>C rs375743510 0.13327
NM_000512.5(GALNS):c.1243-309A>G rs55789563 0.12428
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000512.5(GALNS):c.245-65G>A rs112246973 0.08235
NM_000512.5(GALNS):c.1242+97G>T rs73251097 0.06662
NM_000512.5(GALNS):c.320-342G>A rs78178561 0.05788
NM_000512.5(GALNS):c.423-253G>A rs117624874 0.05743
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.244+49C>T rs13334220 0.05168
NM_000512.5(GALNS):c.1242+36C>T rs116993143 0.05164
NM_000512.5(GALNS):c.898+42G>C rs76095307 0.05085
NM_000512.5(GALNS):c.759-84G>A rs75914102 0.05070
NM_000512.5(GALNS):c.758+22C>T rs78317153 0.04917
NM_000512.5(GALNS):c.121-208A>G rs28493584 0.04733
NM_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_000512.5(GALNS):c.566+322G>T rs9923565 0.04494
NM_000512.5(GALNS):c.898+228_898+229del rs140419131 0.04439
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_000512.5(GALNS):c.1003-134del rs3833041 0.03986
NM_000512.5(GALNS):c.1139+108C>T rs115789441 0.03980
NM_000512.5(GALNS):c.1140-85C>T rs73251099 0.03871
NM_000512.5(GALNS):c.1003-127G>A rs74035850 0.03865
NM_000512.5(GALNS):c.1140-163A>G rs76578155 0.03856
NM_000512.5(GALNS):c.1140-161C>A rs75205147 0.03828
NM_000512.5(GALNS):c.566+195T>C rs117577078 0.03810
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_000512.5(GALNS):c.898+100C>T rs117163814 0.03711
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000512.5(GALNS):c.566+110T>G rs16965092 0.03692
NM_000512.5(GALNS):c.423-128A>G rs3743542 0.03687
NM_000512.5(GALNS):c.423-89A>G rs3743543 0.03679
NM_000512.5(GALNS):c.423-239G>A rs118162132 0.03676
NM_000512.5(GALNS):c.1364+256T>C rs144243016 0.03668
NM_000512.5(GALNS):c.633+157G>A rs147408884 0.03588
NM_000512.5(GALNS):c.1482+281C>T rs115492020 0.03314
NM_000512.5(GALNS):c.422+78A>G rs116722990 0.03303
NM_000512.5(GALNS):c.567-247G>A rs146543079 0.03114
NM_000512.5(GALNS):c.567-259G>A rs143875431 0.03108
NM_000512.5(GALNS):c.422+328G>A rs115776613 0.03104
NM_000512.5(GALNS):c.634-125C>T rs113435087 0.02951
NM_000512.5(GALNS):c.899-276G>A rs75267235 0.02917
NM_000512.5(GALNS):c.898+68G>A rs7187783 0.02903
NM_000512.5(GALNS):c.898+208G>A rs7187565 0.02902
NM_000512.5(GALNS):c.1002+174C>T rs2061376 0.02219
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_000512.5(GALNS):c.422+273A>G rs75750032 0.01860
NM_000512.5(GALNS):c.244+59C>T rs150155464 0.01819
NM_000512.5(GALNS):c.423-161C>T rs117215304 0.01776
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_000512.5(GALNS):c.1243-324G>T rs150894695 0.01179
NM_000512.5(GALNS):c.1139+237C>A rs142114511 0.01148
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_000512.5(GALNS):c.1243-45G>A rs79025743 0.00909
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_000512.5(GALNS):c.1242+29G>A rs115524203 0.00597
NM_000512.5(GALNS):c.1002+157A>G rs3933762 0.00498
NM_000512.5(GALNS):c.1002+172A>G rs2061375 0.00390
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000512.5(GALNS):c.566+30C>T rs200659210 0.00141
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000512.5(GALNS):c.633+22T>C rs201579340 0.00045
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_000512.5(GALNS):c.756G>A (p.Gly252=) rs146538873 0.00021
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.899-6T>C rs374850312 0.00014
NM_000512.5(GALNS):c.138C>T (p.Leu46=) rs140588640 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000512.5(GALNS):c.833C>T (p.Ala278Val) rs141544939 0.00005
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 0.00003
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.498del (p.Phe167fs) rs772656696 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.1176G>A (p.Ala392=) rs398123431 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe) rs398123433 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444 0.00001
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu) rs1057518404 0.00001
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg) rs556060696 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
GRCh37/hg19 16q24.3(chr16:88891364-88902183)x1
NM_000512.5(GALNS):c.1002+108C>G
NM_000512.5(GALNS):c.1002+307G>C rs866140272
NM_000512.5(GALNS):c.1003-10T>G rs753249472
NM_000512.5(GALNS):c.1113C>T (p.Thr371=) rs375098009
NM_000512.5(GALNS):c.1140-164_1140-163insCCCAGGCACCCCAGCCCCGGACA rs371781935
NM_000512.5(GALNS):c.1140-210_1140-188dup rs796942675
NM_000512.5(GALNS):c.1140-256_1140-242del rs373492223
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter) rs1567519109
NM_000512.5(GALNS):c.1243-243G>A rs115109426
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
NM_000512.5(GALNS):c.1315C>T (p.Pro439Ser) rs1910357740
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1364+8G>T rs368171136
NM_000512.5(GALNS):c.1482+599C>T
NM_000512.5(GALNS):c.1485C>T (p.Asn495=)
NM_000512.5(GALNS):c.1513G>A (p.Gly505Arg) rs761539025
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.266G>T (p.Gly89Val) rs398123436
NM_000512.5(GALNS):c.306C>T (p.Ala102=)
NM_000512.5(GALNS):c.319+15G>T rs777179922
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.422+117C>A rs8054994
NM_000512.5(GALNS):c.423-1049C>T
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.539T>C (p.Val180Ala) rs886039376
NM_000512.5(GALNS):c.566+186T>C
NM_000512.5(GALNS):c.567-256C>G rs112837743
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys) rs886042058
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.634-134A>G rs112424203
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.758+135G>A rs79939637
NM_000512.5(GALNS):c.758+94C>T
NM_000512.5(GALNS):c.759-129G>C rs117958182
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000512.5(GALNS):c.829G>A (p.Val277Ile) rs1911999994
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.865A>T (p.Asn289Tyr)
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.899-66_907delinsACTCAGTG rs1597559669
NM_000512.5(GALNS):c.916T>G (p.Phe306Val) rs2142999207

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