ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic by GeneReviews

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Gene type:
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Total variants: 120
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HGVS dbSNP
GNPTAB:c.1895C>G
NM_024312.4(GNPTAB):c.118-?_203+?dup86
NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs) rs34924076
NM_024312.4(GNPTAB):c.555_556ins296 (p.?)
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.750+3A>C
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969
NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) rs281864970
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) rs281864970
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) rs137852900
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.5(GNPTAB):c.118-2A>G rs281865023
NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs) rs281864971
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026
NM_024312.5(GNPTAB):c.1206dup (p.Ile403fs) rs281864972
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr) rs281864973
NM_024312.5(GNPTAB):c.121del (p.Val41fs) rs281864948
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala) rs137852895
NM_024312.5(GNPTAB):c.1285-2A>G rs281864974
NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr) rs281864975
NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs) rs281864976
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1381T>G (p.Cys461Gly) rs281864977
NM_024312.5(GNPTAB):c.1385dup (p.Asp462fs) rs281864978
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1402T>A (p.Cys468Ser) rs281864979
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter) rs281864981
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs) rs281865027
NM_024312.5(GNPTAB):c.163dup (p.Ser55fs) rs281864949
NM_024312.5(GNPTAB):c.168T>A (p.Tyr56Ter) rs281864950
NM_024312.5(GNPTAB):c.171del (p.Asp58fs) rs281864951
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.1955_1958TAGT[1] (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer) rs281864984
NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly) rs142172397
NM_024312.5(GNPTAB):c.1999G>T (p.Glu667Ter) rs281864985
NM_024312.5(GNPTAB):c.1999_2000insT (p.Glu667fs) rs281864986
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2089dup (p.Leu697fs) rs281864987
NM_024312.5(GNPTAB):c.2188delinsAAA (p.Leu730fs) rs34161232
NM_024312.5(GNPTAB):c.2189del (p.Leu730fs) rs281864988
NM_024312.5(GNPTAB):c.2196G>T (p.Lys732Asn) rs281864989
NM_024312.5(GNPTAB):c.2220_2221dup (p.Met741fs) rs281864990
NM_024312.5(GNPTAB):c.2249dup (p.Asn750fs) rs281864991
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) rs281864992
NM_024312.5(GNPTAB):c.229_231GTT[1] (p.Val78del) rs281864952
NM_024312.5(GNPTAB):c.2422del (p.Leu808fs) rs281864993
NM_024312.5(GNPTAB):c.2427del (p.Leu810fs) rs281864994
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu) rs281864953
NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter) rs281865028
NM_024312.5(GNPTAB):c.2544del (p.Glu849fs) rs281864995
NM_024312.5(GNPTAB):c.2545_2549GAAAA[1] (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2591_2592insG (p.Asn865fs) rs281864997
NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs) rs281865030
NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter) rs281864998
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter) rs137852899
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs) rs281864999
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001
NM_024312.5(GNPTAB):c.2777A>C (p.Gln926Pro) rs281865002
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) rs281865004
NM_024312.5(GNPTAB):c.2867A>G (p.His956Arg) rs281865005
NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer) rs281865032
NM_024312.5(GNPTAB):c.3002T>C (p.Leu1001Pro) rs281865006
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) rs281865007
NM_024312.5(GNPTAB):c.3061C>T (p.Gln1021Ter) rs281865008
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896
NM_024312.5(GNPTAB):c.3145_3146insC (p.Gly1049fs) rs281865033
NM_024312.5(GNPTAB):c.3160C>G (p.Leu1054Val) rs281865010
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter) rs137852898
NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs) rs34256381
NM_024312.5(GNPTAB):c.3232del (p.Tyr1078fs) rs281865011
NM_024312.5(GNPTAB):c.3249+1G>A rs281865012
NM_024312.5(GNPTAB):c.3249+1G>C rs281865012
NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs) rs281865035
NM_024312.5(GNPTAB):c.3310del (p.Ala1104fs) rs281865013
NM_024312.5(GNPTAB):c.3330dup (p.Tyr1111fs) rs281865014
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3336-1G>C rs397507562
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232
NM_024312.5(GNPTAB):c.3428dup (p.Asn1143fs) rs281865017
NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3434+1G>A rs281865036
NM_024312.5(GNPTAB):c.3435-1G>A rs281865037
NM_024312.5(GNPTAB):c.3439_3442TTTG[1] (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.3458A>G (p.Asn1153Ser) rs281865019
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs) rs281865038
NM_024312.5(GNPTAB):c.3487_3490del (p.Gln1162_Thr1163insTer) rs281865020
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3523_3529del (p.Met1175fs) rs281865021
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs) rs281865039
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) rs281864947
NM_024312.5(GNPTAB):c.517_518insA (p.Pro173fs) rs281864957
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.571+3A>C rs281864960
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.625_629del (p.Arg209fs) rs281864961
NM_024312.5(GNPTAB):c.637-1G>A rs281864962
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024312.5(GNPTAB):c.755_759del (p.Leu251_Ser252insTer) rs281864965
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526
NM_024312.5(GNPTAB):c.850del (p.Thr284fs) rs34517004
NM_024312.5(GNPTAB):c.857dup (p.Asn287fs) rs281864966
NM_024312.5(GNPTAB):c.914dup (p.Asp305fs) rs281864967
NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter) rs281864968

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