ClinVar Miner

List of variants reported as likely pathogenic for GNPTAB-mucolipidosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 247
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) rs773452586 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp) rs765682282 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) rs144060383 0.00002
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001 0.00002
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025 0.00002
NM_032520.5(GNPTG):c.53-2A>G rs779597308 0.00002
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980 0.00001
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374 0.00001
NM_024312.5(GNPTAB):c.2072_2073insG (p.Glu692fs) rs1043530261 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.3694-1G>A rs1297022622 0.00001
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) rs281864947 0.00001
NM_024312.5(GNPTAB):c.637-6T>G rs750793712 0.00001
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NC_000012.11:g.(?_102140932)_(102155551_?)del
NC_000012.11:g.(?_102158416)_(102185374_?)del
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) rs281864970
NM_024312.5(GNPTAB):c.100G>C (p.Ala34Pro) rs1555277061
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024312.5(GNPTAB):c.1021_1023del (p.Pro341del) rs1060499679
NM_024312.5(GNPTAB):c.1032del (p.Asn345fs) rs1555270321
NM_024312.5(GNPTAB):c.1052dup (p.Asn351fs)
NM_024312.5(GNPTAB):c.1113+1G>T
NM_024312.5(GNPTAB):c.1114-2A>G rs2137123738
NM_024312.5(GNPTAB):c.1114-8_1119del rs2137123733
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
NM_024312.5(GNPTAB):c.1154C>A (p.Ser385Ter)
NM_024312.5(GNPTAB):c.117+1G>T rs1324141092
NM_024312.5(GNPTAB):c.118-1G>A rs1301743166
NM_024312.5(GNPTAB):c.1284+1G>A
NM_024312.5(GNPTAB):c.1284+1G>T rs1256349457
NM_024312.5(GNPTAB):c.1285-1G>A
NM_024312.5(GNPTAB):c.137del (p.Arg46fs)
NM_024312.5(GNPTAB):c.1383C>A (p.Cys461Ter)
NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer) rs1555270066
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.142del (p.Gln48fs)
NM_024312.5(GNPTAB):c.1471C>T (p.Gln491Ter)
NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)
NM_024312.5(GNPTAB):c.1479del (p.Trp493fs)
NM_024312.5(GNPTAB):c.1492G>T (p.Gly498Ter) rs1953090856
NM_024312.5(GNPTAB):c.1500_1501del (p.Asn500fs)
NM_024312.5(GNPTAB):c.1512C>A (p.Tyr504Ter)
NM_024312.5(GNPTAB):c.1528del (p.Ala510fs)
NM_024312.5(GNPTAB):c.1538G>A (p.Trp513Ter)
NM_024312.5(GNPTAB):c.1582T>C (p.Cys528Arg)
NM_024312.5(GNPTAB):c.1612+1G>A rs1566075180
NM_024312.5(GNPTAB):c.1613-1G>C
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.1633A>T (p.Lys545Ter) rs1953073126
NM_024312.5(GNPTAB):c.1634_1635del (p.Lys545fs)
NM_024312.5(GNPTAB):c.1664_1667delinsTA (p.Tyr555fs) rs1953072149
NM_024312.5(GNPTAB):c.1677del (p.Gly560fs)
NM_024312.5(GNPTAB):c.1678_1679insAGACA (p.Gly560fs)
NM_024312.5(GNPTAB):c.1693del (p.Tyr565fs)
NM_024312.5(GNPTAB):c.1699_1700insAGAGACAG (p.Ser567fs)
NM_024312.5(GNPTAB):c.1760G>A (p.Arg587Gln)
NM_024312.5(GNPTAB):c.1780A>T (p.Lys594Ter) rs1953069110
NM_024312.5(GNPTAB):c.184G>T (p.Gly62Ter) rs1869312458
NM_024312.5(GNPTAB):c.1882C>T (p.Gln628Ter) rs1953067028
NM_024312.5(GNPTAB):c.1888del (p.Thr630fs)
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1954_1955del (p.Leu652fs)
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs) rs1429181351
NM_024312.5(GNPTAB):c.1987del (p.Glu663fs)
NM_024312.5(GNPTAB):c.2009_2010del (p.Pro670fs)
NM_024312.5(GNPTAB):c.2010del (p.Glu672fs)
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp) rs531738916
NM_024312.5(GNPTAB):c.203+1G>A
NM_024312.5(GNPTAB):c.203+2T>C rs1594242785
NM_024312.5(GNPTAB):c.2036dup (p.Arg680fs)
NM_024312.5(GNPTAB):c.204-1G>C rs748389002
NM_024312.5(GNPTAB):c.204-2A>G
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2054C>A (p.Ser685Ter)
NM_024312.5(GNPTAB):c.2083_2096del (p.Ile695fs)
NM_024312.5(GNPTAB):c.2102C>A (p.Ser701Ter) rs1953060930
NM_024312.5(GNPTAB):c.2129_2135del (p.Ser710fs) rs1953060183
NM_024312.5(GNPTAB):c.2198C>A (p.Ser733Ter) rs1953059037
NM_024312.5(GNPTAB):c.2211del (p.Arg737fs)
NM_024312.5(GNPTAB):c.2219_2220del (p.Leu740fs)
NM_024312.5(GNPTAB):c.2229dup (p.Gln744fs)
NM_024312.5(GNPTAB):c.2251C>T (p.Gln751Ter) rs1566073911
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) rs281864992
NM_024312.5(GNPTAB):c.2285T>A (p.Leu762Ter)
NM_024312.5(GNPTAB):c.2317_2318del (p.Ser773fs)
NM_024312.5(GNPTAB):c.2358_2370del (p.Gln786fs)
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs) rs1060499685
NM_024312.5(GNPTAB):c.2401_2402delinsAACC (p.Asp801fs)
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu) rs281864953
NM_024312.5(GNPTAB):c.24_28del (p.Arg8fs)
NM_024312.5(GNPTAB):c.2502del (p.Lys834fs)
NM_024312.5(GNPTAB):c.2531_2538dup (p.Thr847delinsAlaArgTer)
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2550_2554dup (p.Ile852fs) rs281864996
NM_024312.5(GNPTAB):c.2614del (p.Val872fs) rs1060499681
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs) rs752874974
NM_024312.5(GNPTAB):c.2662del (p.Tyr888fs)
NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs) rs1555269488
NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter) rs779927550
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2731A>T (p.Lys911Ter) rs1953000660
NM_024312.5(GNPTAB):c.2757_2758del (p.Asp919fs) rs757574720
NM_024312.5(GNPTAB):c.2761A>T (p.Lys921Ter) rs1952999818
NM_024312.5(GNPTAB):c.2779del (p.Gln926_Leu927insTer)
NM_024312.5(GNPTAB):c.2794_2796delinsTT (p.Ala932fs)
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) rs281865004
NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter) rs1952995212
NM_024312.5(GNPTAB):c.2915+1G>A rs1952995034
NM_024312.5(GNPTAB):c.2915+2T>C
NM_024312.5(GNPTAB):c.2915+4_2915+9del rs1952994888
NM_024312.5(GNPTAB):c.2947_2949delinsG (p.His983fs)
NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs) rs1555269154
NM_024312.5(GNPTAB):c.2953_2954delinsA (p.Val985fs) rs1952989955
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His) rs776312538
NM_024312.5(GNPTAB):c.295C>T (p.Gln99Ter) rs1868886361
NM_024312.5(GNPTAB):c.2985_2989del (p.Phe995fs) rs1952988642
NM_024312.5(GNPTAB):c.2991T>A (p.Tyr997Ter)
NM_024312.5(GNPTAB):c.2995del (p.Tyr999fs)
NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter) rs1952987753
NM_024312.5(GNPTAB):c.3026_3034delinsT (p.Asn1009fs)
NM_024312.5(GNPTAB):c.3041_3042del (p.Val1013_Phe1014insTer)
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) rs281865007
NM_024312.5(GNPTAB):c.3055dup (p.Thr1019fs)
NM_024312.5(GNPTAB):c.3082A>T (p.Arg1028Ter) rs1952986419
NM_024312.5(GNPTAB):c.3134_3135+8delinsCGTTAAGTAGATT
NM_024312.5(GNPTAB):c.3135+1_3135+5delinsTTGTC
NM_024312.5(GNPTAB):c.3136-1G>A rs1952971551
NM_024312.5(GNPTAB):c.3165_3168del (p.Asn1056fs)
NM_024312.5(GNPTAB):c.3196dup (p.Thr1066fs)
NM_024312.5(GNPTAB):c.323+1G>A rs2137150067
NM_024312.5(GNPTAB):c.324-2A>G
NM_024312.5(GNPTAB):c.3250-10_3335+112dup rs1555268712
NM_024312.5(GNPTAB):c.3250-16_3335+104dup rs1952918542
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT rs1060499687
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024312.5(GNPTAB):c.3254dup (p.Val1086fs)
NM_024312.5(GNPTAB):c.3271_3272del (p.Val1091fs)
NM_024312.5(GNPTAB):c.3294_3297del (p.Asp1099fs)
NM_024312.5(GNPTAB):c.3301dup (p.Ile1101fs)
NM_024312.5(GNPTAB):c.3307_3318delinsCAGTAACT (p.Lys1103_Lys1106delinsGlnTer) rs1952921914
NM_024312.5(GNPTAB):c.3335+5G>A
NM_024312.5(GNPTAB):c.3336-1G>A rs397507562
NM_024312.5(GNPTAB):c.3336-1G>C rs397507562
NM_024312.5(GNPTAB):c.3449del (p.Leu1150fs) rs1060499684
NM_024312.5(GNPTAB):c.3456C>A (p.Asp1152Glu) rs1594204203
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe) rs1060499689
NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter) rs1257678960
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser) rs1060499688
NM_024312.5(GNPTAB):c.3602+2T>A rs1952850476
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter) rs1952850511
NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter) rs1555267839
NM_024312.5(GNPTAB):c.366-1G>A
NM_024312.5(GNPTAB):c.366-2A>G rs1555271868
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs) rs1555271865
NM_024312.5(GNPTAB):c.380_381del (p.Glu127fs)
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter) rs1555277081
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.45_49del (p.His16fs)
NM_024312.5(GNPTAB):c.542C>G (p.Ser181Ter) rs756660023
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.56_57del (p.Gly19fs)
NM_024312.5(GNPTAB):c.571+1G>A rs1412230289
NM_024312.5(GNPTAB):c.571+4A>G
NM_024312.5(GNPTAB):c.571+4A>T rs1868618470
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile) rs751953529
NM_024312.5(GNPTAB):c.572-2A>G
NM_024312.5(GNPTAB):c.598A>T (p.Lys200Ter) rs1953327561
NM_024312.5(GNPTAB):c.599_600del (p.Lys200fs)
NM_024312.5(GNPTAB):c.625_629del (p.Arg209fs) rs281864961
NM_024312.5(GNPTAB):c.630del (p.Tyr211fs)
NM_024312.5(GNPTAB):c.635T>A (p.Leu212Ter) rs1953326710
NM_024312.5(GNPTAB):c.636+1G>A rs746175107
NM_024312.5(GNPTAB):c.637-1G>A rs281864962
NM_024312.5(GNPTAB):c.637-1del
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.680T>A (p.Leu227Ter) rs1953321606
NM_024312.5(GNPTAB):c.694G>T (p.Gly232Ter)
NM_024312.5(GNPTAB):c.699_700insGTTT (p.Pro234fs)
NM_024312.5(GNPTAB):c.712A>T (p.Lys238Ter) rs1953321100
NM_024312.5(GNPTAB):c.724C>T (p.Gln242Ter)
NM_024312.5(GNPTAB):c.733del (p.Thr245fs)
NM_024312.5(GNPTAB):c.745G>T (p.Glu249Ter)
NM_024312.5(GNPTAB):c.771+1G>C rs1555271217
NM_024312.5(GNPTAB):c.771+2T>A rs1555271215
NM_024312.5(GNPTAB):c.772-1G>C rs2137125146
NM_024312.5(GNPTAB):c.772-1G>T
NM_024312.5(GNPTAB):c.772-2_786del
NM_024312.5(GNPTAB):c.772-4_786delinsTT
NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer) rs1555270428
NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter) rs1953165554
NM_024312.5(GNPTAB):c.933+1G>A
NM_024312.5(GNPTAB):c.933+1G>T rs1327876395
NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter) rs1953155445
NM_024312.5(GNPTAB):c.998T>A (p.Leu333Ter)
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895
NM_032520.5(GNPTG):c.110+1G>A rs1555450716
NM_032520.5(GNPTG):c.110+1G>C rs1555450716
NM_032520.5(GNPTG):c.178+2T>C rs1555450744
NM_032520.5(GNPTG):c.179-1G>A rs988175540
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) rs2141861740
NM_032520.5(GNPTG):c.216_217del (p.Phe72fs)
NM_032520.5(GNPTG):c.233+1G>T rs376679416
NM_032520.5(GNPTG):c.233+2T>A rs1555451608
NM_032520.5(GNPTG):c.233+2T>C rs1555451608
NM_032520.5(GNPTG):c.233+5G>A rs1060499691
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter)
NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter)
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer) rs1555451643
NM_032520.5(GNPTG):c.293G>A (p.Trp98Ter) rs1555451684
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) rs1555450681
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.318-28_351del rs2034895916
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) rs1060499690
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.37_38delinsT (p.Gly13fs)
NM_032520.5(GNPTG):c.384_385dup (p.Cys129fs)
NM_032520.5(GNPTG):c.412-1G>C rs1555451866
NM_032520.5(GNPTG):c.432_433del (p.Ser145fs)
NM_032520.5(GNPTG):c.436_446del (p.Asn146fs) rs1555451874
NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter)
NM_032520.5(GNPTG):c.52+1G>C rs2141632749
NM_032520.5(GNPTG):c.526+2T>G
NM_032520.5(GNPTG):c.553C>T (p.Gln185Ter)
NM_032520.5(GNPTG):c.583del (p.Leu195fs)
NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.609+1G>C rs1260510628
NM_032520.5(GNPTG):c.617_638dup (p.Phe213fs)
NM_032520.5(GNPTG):c.685del (p.Gln229fs) rs772287534
NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter)
NM_032520.5(GNPTG):c.720_721dup (p.Thr241fs)
NM_032520.5(GNPTG):c.742-1G>A rs373976323
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) rs1555452081
NM_032520.5(GNPTG):c.823+1G>T rs1385935677
NM_032520.5(GNPTG):c.88_90delinsTT (p.Val30fs)
NM_032520.5(GNPTG):c.916T>C (p.Ter306Arg)

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