ClinVar Miner

List of variants in gene GNPTAB studied for not provided

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Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.204-236G>A rs222512 0.97158
NM_024312.5(GNPTAB):c.366-233G>A rs6539012 0.67271
NM_024312.5(GNPTAB):c.771+276A>G rs4764816 0.63987
NM_024312.5(GNPTAB):c.772-148T>C rs4403858 0.61207
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.3434+112C>G rs3736475 0.60946
NM_024312.5(GNPTAB):c.365+145C>T rs2108694 0.60798
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.1285-166G>A rs7963747 0.57958
NM_024312.5(GNPTAB):c.3602+167C>T rs6539011 0.44502
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476 0.30966
NM_024312.5(GNPTAB):c.204-103G>T rs11111024 0.12389
NM_024312.5(GNPTAB):c.3136-257C>T rs11111002 0.11150
NM_024312.5(GNPTAB):c.3602+62A>G rs11110997 0.09704
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.365+284G>A rs55764824 0.08093
NM_024312.5(GNPTAB):c.934-142T>C rs17724970 0.07503
NM_024312.5(GNPTAB):c.3136-295G>A rs12366292 0.06407
NM_024312.5(GNPTAB):c.3694-84A>T rs117751503 0.05791
NM_024312.5(GNPTAB):c.3136-150_3136-149insAG rs111593080 0.05315
NM_024312.5(GNPTAB):c.636+64G>A rs1860088 0.03869
NM_024312.5(GNPTAB):c.*43C>T rs79089208 0.03438
NM_024312.5(GNPTAB):c.3435-246A>G rs2271641 0.03083
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_024312.5(GNPTAB):c.1408+317A>C rs12822705 0.02968
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3602+175C>T rs147981921 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_024312.5(GNPTAB):c.572-52A>G rs116100586 0.01797
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.324-202T>C rs17032008 0.01425
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_024312.5(GNPTAB):c.3603-239T>C rs11110994 0.01420
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.1408+138C>T rs12822003 0.01276
NM_024312.5(GNPTAB):c.*143G>A rs76267316 0.01208
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_024312.5(GNPTAB):c.365+77T>G rs76819998 0.01162
NM_024312.5(GNPTAB):c.1114-17T>C rs112075452 0.01149
NM_024312.5(GNPTAB):c.3249+148G>A rs75750934 0.01117
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_024312.5(GNPTAB):c.203+248G>A rs56016850 0.01017
NM_024312.5(GNPTAB):c.118-117A>G rs78790818 0.00978
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_024312.5(GNPTAB):c.204-21G>C rs12322848 0.00393
NM_024312.5(GNPTAB):c.323+36A>G rs182910639 0.00070
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628 0.00049
NM_024312.5(GNPTAB):c.3114C>T (p.His1038=) rs148918729 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) rs183435240 0.00029
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576 0.00025
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser) rs146476305 0.00025
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr) rs149718548 0.00021
NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys) rs139411012 0.00020
NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr) rs373314316 0.00010
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_024312.5(GNPTAB):c.2705A>G (p.Asp902Gly) rs375156660 0.00007
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile) rs188192351 0.00006
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val) rs374265672 0.00006
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00006
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024312.5(GNPTAB):c.1818G>A (p.Met606Ile) rs770996690 0.00004
NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp) rs765682282 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
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.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.1053C>T (p.Asn351=) rs749261391 0.00001
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=) rs775742250 0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553 0.00001
NM_024312.5(GNPTAB):c.2094A>G (p.Val698=) rs778029826 0.00001
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr) rs376620571 0.00001
NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys) rs765924360 0.00001
NM_024312.5(GNPTAB):c.257A>C (p.Asp86Ala) rs763827719 0.00001
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031 0.00001
NM_024312.5(GNPTAB):c.2896del (p.Met966fs) rs398124398 0.00001
NM_024312.5(GNPTAB):c.3265A>T (p.Ser1089Cys) rs766107961 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.452T>G (p.Leu151Arg) rs200015550 0.00001
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824 0.00001
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024312.5(GNPTAB):c.1036_1037del (p.Ile346fs) rs398124396
NM_024312.5(GNPTAB):c.1051A>G (p.Asn351Asp)
NM_024312.5(GNPTAB):c.1113+54G>A
NM_024312.5(GNPTAB):c.112G>T (p.Gly38Ter)
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.118-2A>G rs281865023
NM_024312.5(GNPTAB):c.1284+286G>A rs11111014
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter) rs398124397
NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs) rs281864976
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1442G>T (p.Gly481Val)
NM_024312.5(GNPTAB):c.1547A>T (p.Asp516Val)
NM_024312.5(GNPTAB):c.1567T>C (p.Cys523Arg) rs2137119014
NM_024312.5(GNPTAB):c.157_160del (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1612+201TGTTT[4] rs145655441
NM_024312.5(GNPTAB):c.1613-34dup rs546802775
NM_024312.5(GNPTAB):c.1831del (p.Ile611fs) rs2137117656
NM_024312.5(GNPTAB):c.1875C>G (p.Phe625Leu) rs137853823
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.203+197_203+200del rs66520841
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2249dup (p.Asn750fs) rs281864991
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.2852G>A (p.Arg951Gln) rs777346722
NM_024312.5(GNPTAB):c.2937G>C (p.Lys979Asn)
NM_024312.5(GNPTAB):c.2957G>C (p.Arg986Pro) rs776312538
NM_024312.5(GNPTAB):c.323+11dup rs546617430
NM_024312.5(GNPTAB):c.3281_3282del (p.Asn1093_Cys1094insTer) rs1594207573
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) rs797044663
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.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs) rs781689303
NM_024312.5(GNPTAB):c.3602+187C>T rs143470320
NM_024312.5(GNPTAB):c.3602+348C>T
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.365+96_365+97del rs4015837
NM_024312.5(GNPTAB):c.3751C>T (p.Pro1251Ser) rs1555267626
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.69C>T (p.Cys23=)
NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) rs398124400
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024312.5(GNPTAB):c.758C>T (p.Ser253Phe)
NM_024312.5(GNPTAB):c.772-105_772-104dup rs367687458
NM_024312.5(GNPTAB):c.772-105dup rs367687458
NM_024312.5(GNPTAB):c.772-90del rs367687458
NM_024312.5(GNPTAB):c.923C>T (p.Ala308Val)
NM_024312.5(GNPTAB):c.945T>G (p.Asp315Glu) rs2137124308
NM_024312.5(GNPTAB):c.964C>T (p.Arg322Cys) rs2137124252
NM_024312.5(GNPTAB):c.9C>G (p.Phe3Leu)

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