ClinVar Miner

List of variants in gene GNPTAB studied for I cell disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 137
Download table as spreadsheet
HGVS dbSNP
GNPTAB:c.1895C>G
NM_024312.4(GNPTAB):c.-145G>A rs544455347
NM_024312.4(GNPTAB):c.-157C>A rs140600142
NM_024312.4(GNPTAB):c.-33C>T rs372860805
NM_024312.4(GNPTAB):c.-41_-39delGGC rs76300806
NM_024312.4(GNPTAB):c.1001G>T (p.Arg334Leu) rs281864970
NM_024312.4(GNPTAB):c.100G>C (p.Ala34Pro) rs1555277061
NM_024312.4(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.4(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.4(GNPTAB):c.1113+12T>G rs757949849
NM_024312.4(GNPTAB):c.1120T>C (p.Phe374Leu) rs137852900
NM_024312.4(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.4(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.4(GNPTAB):c.117+15C>T rs886048854
NM_024312.4(GNPTAB):c.118-2A>G rs281865023
NM_024312.4(GNPTAB):c.118-?_203+?dup86
NM_024312.4(GNPTAB):c.1191_1194dupGCTG (p.Ser399Alafs) rs281864971
NM_024312.4(GNPTAB):c.1206dupT (p.Ile403Tyrfs) rs281864972
NM_024312.4(GNPTAB):c.121delG (p.Val41Phefs) rs281864948
NM_024312.4(GNPTAB):c.1269C>T (p.His423=) rs111863978
NM_024312.4(GNPTAB):c.1331dupG (p.Ser445Phefs) rs281864976
NM_024312.4(GNPTAB):c.136C>A (p.Arg46=) rs78347057
NM_024312.4(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.4(GNPTAB):c.1381T>G (p.Cys461Gly) rs281864977
NM_024312.4(GNPTAB):c.1399delG (p.Asp467Ilefs) rs397507448
NM_024312.4(GNPTAB):c.1402T>A (p.Cys468Ser) rs281864979
NM_024312.4(GNPTAB):c.1519C>T (p.Gln507Ter) rs281864981
NM_024312.4(GNPTAB):c.1580delC (p.Cys528Valfs) rs36007394
NM_024312.4(GNPTAB):c.1625_1626insC (p.Glu542Aspfs) rs281865027
NM_024312.4(GNPTAB):c.1626A>G (p.Glu542=) rs61745799
NM_024312.4(GNPTAB):c.163_164insT (p.Ser55Phefs) rs281864949
NM_024312.4(GNPTAB):c.171delA (p.Asp58Thrfs) rs281864951
NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs) rs34924076
NM_024312.4(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.4(GNPTAB):c.18G>A (p.Leu6=) rs4764655
NM_024312.4(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468
NM_024312.4(GNPTAB):c.1932A>G (p.Thr644=) rs10778148
NM_024312.4(GNPTAB):c.1959_1962delTAGT (p.Ser654Profs) rs281864983
NM_024312.4(GNPTAB):c.1965delC (p.Ile656Terfs) rs281864984
NM_024312.4(GNPTAB):c.1999G>T (p.Glu667Ter) rs281864985
NM_024312.4(GNPTAB):c.1999_2000insT (p.Glu667Valfs) rs281864986
NM_024312.4(GNPTAB):c.2028G>A (p.Pro676=) rs192607073
NM_024312.4(GNPTAB):c.203G>A (p.Arg68Gln) rs145725972
NM_024312.4(GNPTAB):c.204-15G>T rs10860787
NM_024312.4(GNPTAB):c.2089_2090insC (p.Leu697Profs) rs281864987
NM_024312.4(GNPTAB):c.2188delTinsAAA (p.Leu730Lysfs) rs34161232
NM_024312.4(GNPTAB):c.2189delT (p.Leu730Cysfs) rs281864988
NM_024312.4(GNPTAB):c.2196G>T (p.Lys732Asn) rs281864989
NM_024312.4(GNPTAB):c.2220_2221dupGA (p.Met741Argfs) rs281864990
NM_024312.4(GNPTAB):c.2225A>G (p.Asn742Ser) rs886048851
NM_024312.4(GNPTAB):c.2249_2250insA (p.Asn750Lysfs) rs281864991
NM_024312.4(GNPTAB):c.2275_2276delAA (p.Asn759Terfs) rs281864992
NM_024312.4(GNPTAB):c.2422delC (p.Leu808Trpfs) rs281864993
NM_024312.4(GNPTAB):c.2427delC (p.Leu810Trpfs) rs281864994
NM_024312.4(GNPTAB):c.2481C>T (p.Gly827=) rs3751249
NM_024312.4(GNPTAB):c.2499A>G (p.Glu833=) rs77410031
NM_024312.4(GNPTAB):c.2533C>T (p.Gln845Ter) rs281865028
NM_024312.4(GNPTAB):c.2544delA (p.Glu849Lysfs) rs281864995
NM_024312.4(GNPTAB):c.2550_2554delGAAAA (p.Lys850Asnfs) rs281864996
NM_024312.4(GNPTAB):c.2591_2592insG (p.Asn865Lysfs) rs281864997
NM_024312.4(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024312.4(GNPTAB):c.2625G>A (p.Val875=) rs141529327
NM_024312.4(GNPTAB):c.2659dupA (p.Ser887Lysfs) rs281865030
NM_024312.4(GNPTAB):c.2664C>G (p.Tyr888Ter) rs281864998
NM_024312.4(GNPTAB):c.2665T>C (p.Leu889=) rs139215843
NM_024312.4(GNPTAB):c.2681G>A (p.Trp894Ter) rs137852899
NM_024312.4(GNPTAB):c.2693_2694insA (p.Tyr899Valfs) rs281864999
NM_024312.4(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.4(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024312.4(GNPTAB):c.2916_2917insT (p.Glu975Terfs) rs281865032
NM_024312.4(GNPTAB):c.3002T>C (p.Leu1001Pro) rs281865006
NM_024312.4(GNPTAB):c.3053A>G (p.Asp1018Gly) rs281865007
NM_024312.4(GNPTAB):c.3061C>T (p.Gln1021Ter) rs281865008
NM_024312.4(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009
NM_024312.4(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896
NM_024312.4(GNPTAB):c.3135+5T>C rs759935
NM_024312.4(GNPTAB):c.3145_3146insC (p.Gly1049Alafs) rs281865033
NM_024312.4(GNPTAB):c.3160C>G (p.Leu1054Val) rs281865010
NM_024312.4(GNPTAB):c.3173C>G (p.Ser1058Ter) rs137852898
NM_024312.4(GNPTAB):c.3194T>C (p.Ile1065Thr) rs755148701
NM_024312.4(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392
NM_024312.4(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741
NM_024312.4(GNPTAB):c.3231_3234dupCTAC (p.Tyr1079Leufs) rs34256381
NM_024312.4(GNPTAB):c.3232delT (p.Tyr1078Thrfs) rs281865011
NM_024312.4(GNPTAB):c.3249+1G>A rs281865012
NM_024312.4(GNPTAB):c.3249+1G>C rs281865012
NM_024312.4(GNPTAB):c.3250-2A>G rs875989952
NM_024312.4(GNPTAB):c.3252delA (p.Pro1085Argfs) rs281865035
NM_024312.4(GNPTAB):c.3286C>T (p.Pro1096Ser) rs765553769
NM_024312.4(GNPTAB):c.3306C>G (p.His1102Gln) rs886048850
NM_024312.4(GNPTAB):c.3310delG (p.Ala1104Hisfs) rs281865013
NM_024312.4(GNPTAB):c.3327_3328insA (p.Tyr1111Ilefs) rs281865014
NM_024312.4(GNPTAB):c.3335+11C>G rs191087950
NM_024312.4(GNPTAB):c.3335+14G>A rs141927805
NM_024312.4(GNPTAB):c.3335+1G>A rs34940801
NM_024312.4(GNPTAB):c.3335+6T>G rs34788341
NM_024312.4(GNPTAB):c.3336-1G>C rs397507562
NM_024312.4(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232
NM_024312.4(GNPTAB):c.3428_3429insA (p.Asn1143Lysfs) rs281865017
NM_024312.4(GNPTAB):c.342_343delCA (p.Thr115Asnfs) rs281864954
NM_024312.4(GNPTAB):c.3434+1G>A rs281865036
NM_024312.4(GNPTAB):c.3474_3475delTA (p.His1158Glnfs) rs281865038
NM_024312.4(GNPTAB):c.3487_3490delACAG (p.Thr1163Terfs) rs281865020
NM_024312.4(GNPTAB):c.348G>A (p.Thr116=) rs145244231
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs) rs34002892
NM_024312.4(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854
NM_024312.4(GNPTAB):c.3523_3529delATGTTCC (p.Met1175Profs) rs281865021
NM_024312.4(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.4(GNPTAB):c.3566_3567insA (p.Asn1190Lysfs) rs281865039
NM_024312.4(GNPTAB):c.3602+8C>A rs79493678
NM_024312.4(GNPTAB):c.42G>C (p.Leu14=) rs376257286
NM_024312.4(GNPTAB):c.440delC (p.Asn148Thrfs) rs281864955
NM_024312.4(GNPTAB):c.457G>A (p.Asp153Asn) rs886048853
NM_024312.4(GNPTAB):c.513A>G (p.Ala171=) rs371813268
NM_024312.4(GNPTAB):c.54T>C (p.Tyr18=) rs749134354
NM_024312.4(GNPTAB):c.555_556ins296 (p.?)
NM_024312.4(GNPTAB):c.571+12T>C rs112056979
NM_024312.4(GNPTAB):c.616_619delACAG (p.Thr206Tyrfs) rs281865024
NM_024312.4(GNPTAB):c.625_629delAGGGG (p.Arg209Leufs) rs281864961
NM_024312.4(GNPTAB):c.637-1G>A rs281864962
NM_024312.4(GNPTAB):c.648_651delAGAA (p.Glu217Serfs) rs281864963
NM_024312.4(GNPTAB):c.703C>G (p.Pro235Ala) rs886048852
NM_024312.4(GNPTAB):c.749dupA (p.Asn250Lysfs) rs281864964
NM_024312.4(GNPTAB):c.755_759delCCTCT (p.Ser252Terfs) rs281864965
NM_024312.4(GNPTAB):c.848delA (p.Thr284Leufs) rs34517004
NM_024312.4(GNPTAB):c.857dupA (p.Asn287Glufs) rs281864966
NM_024312.4(GNPTAB):c.863T>C (p.Met288Thr) rs753544044
NM_024312.4(GNPTAB):c.914_915insA (p.Asp305Glufs) rs281864967
NM_024312.4(GNPTAB):c.940C>T (p.Gln314Ter) rs281864968
NM_024312.4(GNPTAB):c.99delC (p.Ala34Profs) rs1408113895
NM_024312.4(GNPTAB):c.[2783A>G;2864C>T]]
NM_024312.4(GNPTAB):c.[3388_3389insC;3392C>T]
NM_024312.4(GNPTAB):c.[545T>A;614A>C]
NM_024312.4:c.3488delC
NM_024312.4:c.750+3A>C
NM_024312.5(GNPTAB):c.235T>G (p.Tyr79Asp)
NM_024312.5(GNPTAB):c.2956C>A (p.Arg986Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.