ClinVar Miner

List of variants reported as pathogenic for GM2 gangliosidosis

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 357
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HGVS dbSNP gnomAD frequency
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) rs820878 0.02757
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00002
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) rs751592419 0.00002
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) rs398123448 0.00002
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) rs779453450 0.00002
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) rs137852797 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000520.6(HEXA):c.1168del (p.Gln390fs) rs772879726 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000520.6(HEXA):c.570G>T (p.Leu190=) rs1188885214 0.00001
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) rs1555475519 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.755G>A (p.Arg252His) rs762255098 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter) rs1567297439 0.00001
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) rs778501777 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
GRCh37/hg19 15q23(chr15:72662932-72670877)
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0
NC_000005.10:g.(?_151253197)_(151267660_?)del
NC_000005.10:g.(?_74640023)_(74705321_74713505)del
NC_000005.10:g.(?_74685241)_(74697126_?)del
NC_000005.10:g.(?_74685251)_(74697116_?)del
NC_000005.10:g.(?_74685261)_(74697106_?)del
NC_000005.10:g.74713507del rs1373278959
NC_000005.9:g.(?_73978914)_(73981242_?)del
NC_000005.9:g.(?_73980960)_(74001165_?)del
NC_000005.9:g.(?_73980960)_(74041702_?)del
NC_000005.9:g.(?_73980968)_(73992932_74001043)del
NC_000005.9:g.(?_73981057)_(73992932_74001043)del
NC_000005.9:g.(?_73981066)_(74017020_?)del
NC_000005.9:g.(?_73981076)_(73981394_?)del
NC_000005.9:g.(?_73985143)_(74014806_?)del
NC_000005.9:g.(?_73992498)_(73992951_?)del
NC_000005.9:g.(?_74001024)_(74014816_?)del
NC_000005.9:g.(?_74011325)_(74017010_?)del
NC_000015.10:g.(?_72350508)_(72351244_?)del
NC_000015.10:g.(?_72374460)_(72375992_?)del
NC_000015.10:g.72647900_72648958del
NC_000015.9:g.(72648959_72668060)_(72668815_?)del
NC_000015.9:g.(?_72103084)_(74244178_?)del
NC_000015.9:g.(?_72636408)_(72636491_?)del
NC_000015.9:g.(?_72636418)_(72637911_?)del
NC_000015.9:g.(?_72637535)_(72639061_?)del
NC_000015.9:g.(?_72638556)_(72639071_?)del
NC_000015.9:g.(?_72638848)_(72639071_?)del
NC_000015.9:g.(?_72638867)_(72641658_?)del
NC_000015.9:g.(?_72640007)_(72648978_?)del
NC_000015.9:g.(?_72646063)_(72653091_?)del
NC_000015.9:g.(?_72662933)_72670877del
NC_000015.9:g.(?_72666801)_(72670977_?)del
NG_009770.3:g.48585_63669del
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter) rs104893897
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000405.5(GM2A):c.209del (p.Gly70fs) rs2114032531
NM_000405.5(GM2A):c.262_264del (p.Lys88del) rs1753894328
NM_000405.5(GM2A):c.333del (p.Cys112fs) rs587779405
NM_000405.5(GM2A):c.410del (p.His137fs) rs2127240813
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) rs104893892
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.4(HEXA):c.[574G>C;598G>A]
NM_000520.6(HEXA):c.1014del (p.Phe338fs)
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1048C>T (p.Gln350Ter)
NM_000520.6(HEXA):c.1053_1054delinsTCCAGCTTGA (p.Glu352delinsProAlaTer)
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)
NM_000520.6(HEXA):c.1073+1G>C rs76173977
NM_000520.6(HEXA):c.107dup (p.Tyr37fs)
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)
NM_000520.6(HEXA):c.1092_1093del (p.Ser365fs)
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.110dup (p.Tyr37Ter)
NM_000520.6(HEXA):c.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) rs1057519464
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
NM_000520.6(HEXA):c.1147-1G>T rs2088620169
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs)
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) rs370266293
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.118del (p.Tyr40fs) rs2140344667
NM_000520.6(HEXA):c.1220del (p.Val407fs) rs2140320741
NM_000520.6(HEXA):c.1250_1251del (p.Ser417fs)
NM_000520.6(HEXA):c.1257dup (p.Trp420fs)
NM_000520.6(HEXA):c.1258del (p.Trp420fs) rs1216659000
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs) rs1555472406
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1330+2T>C rs2140320568
NM_000520.6(HEXA):c.1338del (p.Glu447fs)
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1364del (p.Gly455fs)
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
NM_000520.6(HEXA):c.1385A>T (p.Glu462Val) rs863225434
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs) rs987921756
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1422-2A>G
NM_000520.6(HEXA):c.1429_1445del (p.Ala477fs) rs2140319638
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) rs1057519467
NM_000520.6(HEXA):c.1435del (p.Ala479fs) rs2088601317
NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter) rs121907952
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter) rs2140344619
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter) rs2140319619
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1526+1G>A
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)
NM_000520.6(HEXA):c.1540del (p.Ala514fs)
NM_000520.6(HEXA):c.1543C>T (p.Gln515Ter)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.170dup (p.Cys58fs)
NM_000520.6(HEXA):c.196del (p.Gln66fs)
NM_000520.6(HEXA):c.19del (p.Trp7fs)
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.1A>T (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.21G>A (p.Trp7Ter) rs1407480461
NM_000520.6(HEXA):c.226_242del (p.Gly76fs) rs2140344404
NM_000520.6(HEXA):c.228del (p.Ser77fs)
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.25dup (p.Ser9fs)
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.276dup (p.Asn93fs) rs2088785055
NM_000520.6(HEXA):c.289_290del (p.Val97fs) rs2140329051
NM_000520.6(HEXA):c.293_294del (p.Ser98fs)
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer) rs2088783222
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.32del (p.Leu11fs) rs2140344855
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.395_398del (p.Val132fs) rs2140328176
NM_000520.6(HEXA):c.397del (p.Trp133fs) rs2088765656
NM_000520.6(HEXA):c.398G>A (p.Trp133Ter)
NM_000520.6(HEXA):c.3G>A (p.Met1Ile) rs1595816410
NM_000520.6(HEXA):c.3G>T (p.Met1Ile)
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.422del (p.Thr141fs) rs2088733629
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.426del (p.Phe142fs) rs1057519458
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) rs1595802191
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)
NM_000520.6(HEXA):c.459+24G>C
NM_000520.6(HEXA):c.459+4A>C rs1057519459
NM_000520.6(HEXA):c.460-2A>G
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.492del (p.Arg166fs) rs2140326388
NM_000520.6(HEXA):c.496del (p.Arg166fs) rs2088724288
NM_000520.6(HEXA):c.514_515del (p.Leu172fs)
NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA (p.Gly18fs) rs2140344825
NM_000520.6(HEXA):c.521dup (p.Leu174fs)
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) rs1057519460
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.570G>A (p.Leu190=)
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.608G>A (p.Trp203Ter)
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.631_634del (p.Phe211fs) rs2088690227
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672+1G>T
NM_000520.6(HEXA):c.672+2T>C rs2140324625
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.718_719insT (p.Lys240fs) rs587779407
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.743del (p.Leu248fs) rs2140324174
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000520.6(HEXA):c.749del (p.Gly250fs)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)
NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs)
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) rs1057519463
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.938del (p.Pro313fs) rs2140322934
NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del) rs797044434
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile) rs2140322212
NM_000521.4(HEXB):c.1010dup (p.Lys338fs) rs1579952143
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs) rs2112175206
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) rs1749651392
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1024del (p.Glu342fs) rs2112175228
NM_000521.4(HEXB):c.1082+5G>C rs5030731
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) rs1361998528
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter) rs1306678448
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs) rs1272697701
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer) rs2112177114
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)
NM_000521.4(HEXB):c.1227dup (p.Asp410Ter)
NM_000521.4(HEXB):c.1264dup (p.Glu422fs) rs2112180571
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs) rs2112180614
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs) rs2112180705
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs) rs2112180739
NM_000521.4(HEXB):c.1303del (p.Arg435fs)
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) rs761240717
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer) rs2112180944
NM_000521.4(HEXB):c.1404del (p.Asp470fs) rs2112180987
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs)
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs)
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs)
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs)
NM_000521.4(HEXB):c.1469del (p.Gly490fs)
NM_000521.4(HEXB):c.1469dup (p.Glu491fs)
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs) rs1749803258
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs)
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly) rs1554037088
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs) rs797044644
NM_000521.4(HEXB):c.1529_1550dup (p.Lys517_Asp518insTer)
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1552del (p.Asp518fs)
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs) rs1749812910
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer)
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter) rs1460801055
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs) rs2112186316
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.201del (p.Asn68fs)
NM_000521.4(HEXB):c.283del (p.Glu95fs) rs1748845774
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.299G>C (p.Arg100Pro) rs1060499701
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) rs1748943719
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)
NM_000521.4(HEXB):c.445+1G>A rs761197472
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) rs1749049871
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) rs2112135868
NM_000521.4(HEXB):c.534_537del (p.Leu178fs)
NM_000521.4(HEXB):c.535_538del (p.Val179fs)
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.571_574del (p.Glu191fs) rs1749127843
NM_000521.4(HEXB):c.64_65del (p.Leu22fs) rs1748834145
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)
NM_000521.4(HEXB):c.731del (p.Phe244fs) rs2112156393
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.758del (p.Glu253fs)
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635
NM_000521.4(HEXB):c.76del (p.Met26fs) rs1580377105
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) rs1312009126
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter) rs1579950499
NM_000521.4(HEXB):c.875dup (p.Gly293fs)
NM_000521.4(HEXB):c.876del (p.His294fs) rs1749604779
NM_000521.4(HEXB):c.892del (p.Trp298fs)
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.8del (p.Leu3fs)
NM_000521.4(HEXB):c.916_917del (p.Leu306fs) rs2112174996
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr) rs1554036641
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter) rs1554034434
NM_000521.4(HEXB):c.973_1010del (p.Thr325fs)
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs) rs2112175171

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