ClinVar Miner

List of variants in gene GNPTAB

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Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP
GNPTAB:c.1895C>G
NC_000012.11:g.(?_102224317)_(102224473_?)dup
NC_000012.12:g.101761122A>G
NC_000012.12:g.101790072C>A
NM_024312.4(GNPTAB):c.118-?_203+?dup86
NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs) rs34924076
NM_024312.4(GNPTAB):c.3449delT (p.Leu1150Argfs) rs1060499684
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.3498_3499ins9 rs1555268297
NM_024312.4:c.750+3A>C
NM_024312.5(GNPTAB):c.-145G>A rs544455347
NM_024312.5(GNPTAB):c.-157C>A rs140600142
NM_024312.5(GNPTAB):c.-33C>T rs372860805
NM_024312.5(GNPTAB):c.-62_-60GGC[7] rs76300806
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.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.1034_1035AT[1] (p.Ile346fs) rs398124396
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.5(GNPTAB):c.1053C>T (p.Asn351=) rs749261391
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.1113+12T>G rs757949849
NM_024312.5(GNPTAB):c.1114-17T>C rs112075452
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.1124G>A (p.Arg375Gln)
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.117+15C>T rs886048854
NM_024312.5(GNPTAB):c.117+1G>T
NM_024312.5(GNPTAB):c.117+215C>T
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.1269C>T (p.His423=) rs111863978
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg) rs145281185
NM_024312.5(GNPTAB):c.1285-166G>A
NM_024312.5(GNPTAB):c.1285-2A>G rs281864974
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter) rs398124397
NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr) rs281864975
NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs) rs281864976
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084
NM_024312.5(GNPTAB):c.1381T>G (p.Cys461Gly) rs281864977
NM_024312.5(GNPTAB):c.1385dup (p.Asp462fs) rs281864978
NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer) rs1555270066
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1402T>A (p.Cys468Ser) rs281864979
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=) rs775742250
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008
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.153_156TTTG[1] (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp) rs749452608
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.1613-34dup rs546802775
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs) rs281865027
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799
NM_024312.5(GNPTAB):c.163dup (p.Ser55fs) rs281864949
NM_024312.5(GNPTAB):c.1666_1668ATT[1] (p.Ile557del) rs1555269798
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274
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.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser) rs146476305
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu) rs1555269734
NM_024312.5(GNPTAB):c.1875C>G (p.Phe625Leu) rs137853823
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val)
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met) rs386765812
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys) rs779572693
NM_024312.5(GNPTAB):c.1955_1958TAGT[1] (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs) rs1429181351
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer) rs281864984
NM_024312.5(GNPTAB):c.1973_1975TTC[1] (p.Leu659del) rs754722814
NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly) rs142172397
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val) rs142172397
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=) rs112000802
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.2028G>A (p.Pro676=) rs192607073
NM_024312.5(GNPTAB):c.203+2T>C
NM_024312.5(GNPTAB):c.203G>A (p.Arg68Gln) rs145725972
NM_024312.5(GNPTAB):c.204-103G>T
NM_024312.5(GNPTAB):c.204-15G>T rs10860787
NM_024312.5(GNPTAB):c.204-1G>C rs748389002
NM_024312.5(GNPTAB):c.204-21G>C rs12322848
NM_024312.5(GNPTAB):c.204-236G>A
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2089dup (p.Leu697fs) rs281864987
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr) rs376620571
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe) rs374600127
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.2225A>G (p.Asn742Ser) rs886048851
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.22A>G (p.Arg8Gly)
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) rs183435240
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) rs144060383
NM_024312.5(GNPTAB):c.235T>G (p.Tyr79Asp) rs1566087497
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs) rs1060499685
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.2455del (p.Glu819fs)
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=) rs77410031
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.2545_2549GAAAA[3] (p.Ile852fs) rs281864996
NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys) rs139411012
NM_024312.5(GNPTAB):c.2591_2592insG (p.Asn865fs) rs281864997
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024312.5(GNPTAB):c.2614del (p.Val872fs) rs1060499681
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs) rs752874974
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327
NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs) rs281865030
NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter) rs281864998
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843
NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs) rs1555269488
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter) rs137852899
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del) rs281864999
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs) rs281864999
NM_024312.5(GNPTAB):c.2706_2708TCT[1] (p.Leu904del) rs774128798
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del) rs779351251
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg)
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del) rs1277911354
NM_024312.5(GNPTAB):c.2777A>C (p.Gln926Pro) rs281865002
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
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.2896del (p.Met966fs) rs398124398
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer) rs281865032
NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs) rs1555269154
NM_024312.5(GNPTAB):c.2956C>A (p.Arg986Ser)
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233
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.3114C>T (p.His1038=) rs148918729
NM_024312.5(GNPTAB):c.3135+5T>C rs759935
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.3194T>C (p.Ile1065Thr) rs755148701
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741
NM_024312.5(GNPTAB):c.323+11dup rs546617430
NM_024312.5(GNPTAB):c.323+36A>G rs182910639
NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs) rs34256381
NM_024312.5(GNPTAB):c.3232del (p.Tyr1078fs) rs281865011
NM_024312.5(GNPTAB):c.324-202T>C
NM_024312.5(GNPTAB):c.3249+1G>A rs281865012
NM_024312.5(GNPTAB):c.3249+1G>C rs281865012
NM_024312.5(GNPTAB):c.3250-10_3335+112dup rs1555268712
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT rs1060499687
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs) rs281865035
NM_024312.5(GNPTAB):c.3286C>T (p.Pro1096Ser) rs765553769
NM_024312.5(GNPTAB):c.3306C>G (p.His1102Gln) rs886048850
NM_024312.5(GNPTAB):c.3310del (p.Ala1104fs) rs281865013
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) rs797044663
NM_024312.5(GNPTAB):c.3330dup (p.Tyr1111fs) rs281865014
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805
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>A rs397507562
NM_024312.5(GNPTAB):c.3336-1G>C rs397507562
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup) rs745600783
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+112C>G
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.3488del (p.Thr1163fs) rs1566067386
NM_024312.5(GNPTAB):c.348G>A (p.Thr116=) rs145244231
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854
NM_024312.5(GNPTAB):c.3523_3529del (p.Met1175fs) rs281865021
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe) rs1060499689
NM_024312.5(GNPTAB):c.3556_3557AG[2] (p.Glu1187fs) rs781689303
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs) rs281865039
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser) rs1060499688
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678
NM_024312.5(GNPTAB):c.365+145C>T
NM_024312.5(GNPTAB):c.366-233G>A
NM_024312.5(GNPTAB):c.366-2A>G rs1555271868
NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter) rs774506925
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs) rs1555271865
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter) rs1555277081
NM_024312.5(GNPTAB):c.42G>C (p.Leu14=) rs376257286
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) rs281864947
NM_024312.5(GNPTAB):c.457G>A (p.Asp153Asn) rs886048853
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268
NM_024312.5(GNPTAB):c.517_518insA (p.Pro173fs) rs281864957
NM_024312.5(GNPTAB):c.54T>C (p.Tyr18=) rs749134354
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.571+12T>C rs112056979
NM_024312.5(GNPTAB):c.571+3A>C rs281864960
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile) rs751953529
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.630C>T (p.Gly210=) rs886038684
NM_024312.5(GNPTAB):c.637-1G>A rs281864962
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.703C>G (p.Pro235Ala) rs886048852
NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) rs398124400
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.771+1G>C rs1555271217
NM_024312.5(GNPTAB):c.771+276A>G
NM_024312.5(GNPTAB):c.771+2T>A rs1555271215
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025
NM_024312.5(GNPTAB):c.772-148T>C
NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter) rs1566078120
NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer) rs1555270428
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.863T>C (p.Met288Thr) rs753544044
NM_024312.5(GNPTAB):c.914dup (p.Asp305fs) rs281864967
NM_024312.5(GNPTAB):c.933+1G>T rs1327876395
NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter) rs281864968
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895

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