ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00004
NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) rs281864970 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.377T>A (p.Leu126Ter) rs774506925 0.00002
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025 0.00002
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526 0.00002
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) rs137852900 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.2072_2073insG (p.Glu692fs) rs1043530261 0.00001
NM_024312.5(GNPTAB):c.2502del (p.Lys834fs) rs1953053396 0.00001
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_024312.5(GNPTAB):c.2974C>T (p.Gln992Ter) rs1594210932 0.00001
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009 0.00001
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896 0.00001
NM_024312.5(GNPTAB):c.322A>T (p.Arg108Ter) rs770176191 0.00001
NM_024312.5(GNPTAB):c.325G>T (p.Glu109Ter) rs377553632 0.00001
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00001
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.5(GNPTAB):c.613C>T (p.Gln205Ter) rs1953327287 0.00001
NC_000012.11:g.(102155542_102157979)_(102190541_102224336)del
NC_000012.11:g.(?_102140932)_(102224463_?)del
NC_000012.11:g.(?_102147130)_(102164955_?)del
NC_000012.11:g.(?_102157970)_(102174409_?)del
NC_000012.11:g.(?_102173920)_(102174409_?)del
NC_000012.11:g.(?_102173920)_(102224463_?)del
NC_000012.11:g.(?_102190445)_(102190550_?)dup
NC_000012.12:g.(?_101747144)_(101796782_?)del
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.*295T>C rs2547946899
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024312.5(GNPTAB):c.1052dup (p.Asn351fs) rs2547961354
NM_024312.5(GNPTAB):c.1071G>A (p.Trp357Ter) rs2137124017
NM_024312.5(GNPTAB):c.1122dup (p.Arg375fs) rs2137123723
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1147_1150dup (p.Ser384delinsIleTer)
NM_024312.5(GNPTAB):c.118-1G>A rs1301743166
NM_024312.5(GNPTAB):c.118-2A>G rs281865023
NM_024312.5(GNPTAB):c.1186G>T (p.Glu396Ter) rs1245543262
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr) rs281864973
NM_024312.5(GNPTAB):c.1212C>G (p.Tyr404Ter) rs1594218809
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala) rs137852895
NM_024312.5(GNPTAB):c.1246dup (p.Trp416fs) rs2547960923
NM_024312.5(GNPTAB):c.1247G>A (p.Trp416Ter) rs1201536920
NM_024312.5(GNPTAB):c.1284+1G>T rs1256349457
NM_024312.5(GNPTAB):c.1292T>A (p.Leu431Ter) rs2137121384
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter) rs398124397
NM_024312.5(GNPTAB):c.1342A>T (p.Lys448Ter) rs2547959783
NM_024312.5(GNPTAB):c.1345del (p.Asp449fs) rs1244017657
NM_024312.5(GNPTAB):c.1364C>T (p.Ala455Val) rs2547959753
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.1409-1G>A rs2137119323
NM_024312.5(GNPTAB):c.1409-2A>G rs1953092495
NM_024312.5(GNPTAB):c.1416_1420del (p.Ser472fs) rs2547958817
NM_024312.5(GNPTAB):c.142C>T (p.Gln48Ter) rs2137158804
NM_024312.5(GNPTAB):c.1450dup (p.Thr484fs) rs2547958783
NM_024312.5(GNPTAB):c.1452dup (p.Gly485fs) rs2547958780
NM_024312.5(GNPTAB):c.1467del (p.Gly490fs) rs2137119229
NM_024312.5(GNPTAB):c.1471C>T (p.Gln491Ter) rs2547958752
NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter) rs2547958737
NM_024312.5(GNPTAB):c.147C>G (p.Tyr49Ter) rs2547975414
NM_024312.5(GNPTAB):c.1491del (p.Gly498fs) rs2137119177
NM_024312.5(GNPTAB):c.1495del (p.Gly498_Ile499insTer) rs2547958706
NM_024312.5(GNPTAB):c.1499del (p.Asn500fs) rs2137119157
NM_024312.5(GNPTAB):c.1501dup (p.Ser501fs)
NM_024312.5(GNPTAB):c.1503_1521dup (p.Gly508delinsCysLeuLeuLeuTer) rs2137119084
NM_024312.5(GNPTAB):c.1511del (p.Tyr504fs) rs1479370932
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter) rs281864981
NM_024312.5(GNPTAB):c.157_160del (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1609C>T (p.Gln537Ter) rs2547958587
NM_024312.5(GNPTAB):c.1624G>T (p.Glu542Ter) rs2137118051
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs) rs281865027
NM_024312.5(GNPTAB):c.1665del (p.His554_Tyr555insTer) rs1566074689
NM_024312.5(GNPTAB):c.1701del (p.Phe568fs) rs1594214799
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.178_179del (p.Ile60fs) rs1869312922
NM_024312.5(GNPTAB):c.1858_1880del (p.Thr620fs) rs2547957750
NM_024312.5(GNPTAB):c.1871del (p.Glu624fs) rs2137117586
NM_024312.5(GNPTAB):c.1905_1908del (p.Glu637fs) rs1441014377
NM_024312.5(GNPTAB):c.1906del (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1936dup (p.Gln646fs) rs2137117445
NM_024312.5(GNPTAB):c.1946dup (p.Tyr649Ter) rs2547957658
NM_024312.5(GNPTAB):c.1955T>G (p.Leu652Ter) rs1953064841
NM_024312.5(GNPTAB):c.1956dup (p.Val653fs) rs1953064795
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs) rs1429181351
NM_024312.5(GNPTAB):c.1959_1962del (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.1A>T (p.Met1Leu)
NM_024312.5(GNPTAB):c.2036dup (p.Arg680fs) rs2547957527
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2068dup (p.Gln690fs) rs1953061755
NM_024312.5(GNPTAB):c.2098dup (p.Ile700fs) rs2137117072
NM_024312.5(GNPTAB):c.2115del (p.Asp706fs) rs2547957334
NM_024312.5(GNPTAB):c.2174T>A (p.Leu725Ter) rs923732649
NM_024312.5(GNPTAB):c.2188delinsAAA (p.Leu730fs) rs34161232
NM_024312.5(GNPTAB):c.2204del (p.Leu735fs) rs2547957230
NM_024312.5(GNPTAB):c.2213C>A (p.Ser738Ter) rs1298654156
NM_024312.5(GNPTAB):c.2216_2217del (p.Phe739fs) rs2137116846
NM_024312.5(GNPTAB):c.2250del (p.Gln751fs) rs1953058345
NM_024312.5(GNPTAB):c.2269_2273del (p.Glu757fs) rs2547957136
NM_024312.5(GNPTAB):c.2285del (p.Leu762fs) rs2547957106
NM_024312.5(GNPTAB):c.22A>G (p.Arg8Gly) rs1594269995
NM_024312.5(GNPTAB):c.2303_2306del (p.Lys768fs) rs2137116678
NM_024312.5(GNPTAB):c.2305C>T (p.Gln769Ter) rs1235685630
NM_024312.5(GNPTAB):c.2308del (p.Val770fs) rs1953057183
NM_024312.5(GNPTAB):c.2334_2338del (p.Ser778fs) rs779474781
NM_024312.5(GNPTAB):c.2350del (p.Arg784fs) rs2137116566
NM_024312.5(GNPTAB):c.2363T>A (p.Leu788Ter) rs2547956980
NM_024312.5(GNPTAB):c.2388del (p.Lys796_Val797insTer) rs1430522580
NM_024312.5(GNPTAB):c.2404C>T (p.Gln802Ter) rs1310955639
NM_024312.5(GNPTAB):c.2404del (p.Gln802fs) rs2547956895
NM_024312.5(GNPTAB):c.2423del (p.Leu808fs) rs2137116390
NM_024312.5(GNPTAB):c.2455del (p.Glu819fs) rs1594213713
NM_024312.5(GNPTAB):c.2467C>T (p.Gln823Ter) rs2547956808
NM_024312.5(GNPTAB):c.2497G>T (p.Glu833Ter) rs2547956774
NM_024312.5(GNPTAB):c.2498_2502del (p.Glu833fs) rs1953053436
NM_024312.5(GNPTAB):c.249_267dup (p.Leu90delinsTrpHisArgSerTer) rs2547972361
NM_024312.5(GNPTAB):c.2515_2518del (p.Ile839fs) rs1953052904
NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter) rs281865028
NM_024312.5(GNPTAB):c.2541_2544del (p.Glu849fs) rs2547956692
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2590dup (p.Glu864fs) rs2137116089
NM_024312.5(GNPTAB):c.25C>T (p.Gln9Ter) rs1871323854
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs) rs752874974
NM_024312.5(GNPTAB):c.2654_2655del (p.Thr885fs) rs2137115961
NM_024312.5(GNPTAB):c.2657_2660del (p.Asp886fs) rs2137115943
NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs) rs281865030
NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter) rs281864998
NM_024312.5(GNPTAB):c.2666del (p.Leu889fs) rs2547956479
NM_024312.5(GNPTAB):c.2675del (p.Leu892fs) rs1555269488
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter) rs137852899
NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter) rs779927550
NM_024312.5(GNPTAB):c.2684dup (p.Lys896fs) rs2547956448
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs) rs281864999
NM_024312.5(GNPTAB):c.269del (p.Leu90fs) rs2137150220
NM_024312.5(GNPTAB):c.2701C>T (p.Gln901Ter) rs2547956432
NM_024312.5(GNPTAB):c.2737C>T (p.Gln913Ter) rs2547955024
NM_024312.5(GNPTAB):c.2737_2738del (p.Gln913fs) rs2137113019
NM_024312.5(GNPTAB):c.2748C>G (p.Tyr916Ter) rs143931833
NM_024312.5(GNPTAB):c.2757_2758del (p.Asp919fs) rs757574720
NM_024312.5(GNPTAB):c.280C>T (p.Gln94Ter) rs1391863896
NM_024312.5(GNPTAB):c.2849C>A (p.Ser950Ter) rs1020172077
NM_024312.5(GNPTAB):c.2868_2869del (p.Met957fs) rs2137112755
NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter) rs1952995212
NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer) rs281865032
NM_024312.5(GNPTAB):c.2923del (p.Glu975fs) rs2137112309
NM_024312.5(GNPTAB):c.2935_2939del (p.Lys979fs) rs2547954498
NM_024312.5(GNPTAB):c.2936_2943del (p.Lys979fs) rs2547954482
NM_024312.5(GNPTAB):c.2972dup (p.Met991fs) rs2547954440
NM_024312.5(GNPTAB):c.2980_2983del (p.Ala994fs) rs1952989025
NM_024312.5(GNPTAB):c.2991T>G (p.Tyr997Ter) rs1952988471
NM_024312.5(GNPTAB):c.29_32dup (p.Thr12fs) rs2137197827
NM_024312.5(GNPTAB):c.2T>C (p.Met1Thr) rs2547989679
NM_024312.5(GNPTAB):c.3014_3018dup (p.Pro1007fs) rs2547954355
NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter) rs1952987753
NM_024312.5(GNPTAB):c.3034C>T (p.Gln1012Ter) rs2137112043
NM_024312.5(GNPTAB):c.3085_3086del (p.Glu1029fs) rs749584277
NM_024312.5(GNPTAB):c.3094del (p.Thr1032fs) rs1594210760
NM_024312.5(GNPTAB):c.3098T>C (p.Leu1033Pro) rs1594210754
NM_024312.5(GNPTAB):c.3098dup (p.Ala1034fs) rs2547954219
NM_024312.5(GNPTAB):c.3100del (p.Ala1034fs) rs2137111897
NM_024312.5(GNPTAB):c.3145_3146insC (p.Gly1049fs) rs281865033
NM_024312.5(GNPTAB):c.3159dup (p.Leu1054fs) rs2547953486
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter) rs137852898
NM_024312.5(GNPTAB):c.3199C>T (p.Gln1067Ter) rs2547953413
NM_024312.5(GNPTAB):c.31dup (p.Tyr11fs) rs2547989611
NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs) rs34256381
NM_024312.5(GNPTAB):c.3249+1G>A rs281865012
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs) rs281865035
NM_024312.5(GNPTAB):c.3273_3280del (p.Val1091_Thr1092insTer) rs2547951831
NM_024312.5(GNPTAB):c.3300_3301del (p.Lys1100fs) rs1394425220
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) rs797044663
NM_024312.5(GNPTAB):c.3336-1G>C rs397507562
NM_024312.5(GNPTAB):c.3345del (p.Met1116fs) rs2137106725
NM_024312.5(GNPTAB):c.3369del (p.Phe1123fs) rs2547951445
NM_024312.5(GNPTAB):c.3428dup (p.Asn1143fs) rs281865017
NM_024312.5(GNPTAB):c.3434+1G>A rs281865036
NM_024312.5(GNPTAB):c.3435-1G>A rs281865037
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs) rs281865038
NM_024312.5(GNPTAB):c.3488del (p.Thr1163fs) rs1566067386
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter) rs1257678960
NM_024312.5(GNPTAB):c.3552del (p.Pro1185fs) rs2547949758
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs) rs781689303
NM_024312.5(GNPTAB):c.3569del (p.Asn1190fs) rs281865039
NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs) rs281865039
NM_024312.5(GNPTAB):c.3595C>T (p.Gln1199Ter) rs2547949681
NM_024312.5(GNPTAB):c.3598G>T (p.Glu1200Ter) rs137853825
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter) rs1952850511
NM_024312.5(GNPTAB):c.3603-1G>A rs35576380
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.3621del (p.Lys1207fs) rs2547948106
NM_024312.5(GNPTAB):c.3653del (p.Thr1218fs) rs2137097782
NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs) rs281865022
NM_024312.5(GNPTAB):c.3G>C (p.Met1Ile) rs752247255
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.484del (p.His162fs) rs2547970528
NM_024312.5(GNPTAB):c.518del (p.Pro173fs) rs2137144428
NM_024312.5(GNPTAB):c.524dup (p.Asn175fs) rs1361160803
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.728del (p.Leu243fs) rs2547967554
NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) rs398124400
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024312.5(GNPTAB):c.766A>T (p.Lys256Ter) rs1288191896
NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter) rs1566078120
NM_024312.5(GNPTAB):c.780_895delinsTTTTTATTATGGGAT (p.Leu260fs) rs2547961828
NM_024312.5(GNPTAB):c.831del (p.Gln278fs) rs2547961931
NM_024312.5(GNPTAB):c.835G>T (p.Glu279Ter) rs2547961923
NM_024312.5(GNPTAB):c.839del (p.Glu279_Leu280insTer) rs2547961918
NM_024312.5(GNPTAB):c.850del (p.Thr284fs) rs34517004
NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter) rs1953165554
NM_024312.5(GNPTAB):c.888del (p.Thr296_Ile297insTer) rs2547961837
NM_024312.5(GNPTAB):c.88_89del (p.Thr30fs) rs753382639
NM_024312.5(GNPTAB):c.890dup (p.Ser298fs) rs1953165224
NM_024312.5(GNPTAB):c.905_908del (p.Leu302fs) rs2547961812
NM_024312.5(GNPTAB):c.991del (p.Tyr331fs) rs1953155498
NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter) rs1953155445
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895
NM_024312.5(GNPTAB):c.[2715+1G>A;2980_2983del]

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