ClinVar Miner

List of variants in gene GUCY2D studied for not provided

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Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.-10+5A>G rs7406106 0.99999
NM_000180.4(GUCY2D):c.2413-221T>A rs11655487 0.61795
NM_000180.4(GUCY2D):c.2769+121T>C rs3813585 0.40665
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000180.4(GUCY2D):c.*24+59T>C rs12103519 0.15732
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000180.4(GUCY2D):c.2577-31C>T rs72841482 0.06040
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.2576+41G>C rs8068722 0.03420
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_000180.4(GUCY2D):c.1463+39G>A rs112984002 0.02392
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_000180.4(GUCY2D):c.1956+21G>T rs139731548 0.01923
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) rs146849545 0.00128
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp) rs34331388 0.00111
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00057
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000180.4(GUCY2D):c.337G>A (p.Ala113Thr) rs1445892049 0.00032
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213 0.00031
NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=) rs201196538 0.00025
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu) rs200586401 0.00018
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018 0.00009
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000180.4(GUCY2D):c.647C>T (p.Thr216Ile) rs747354016 0.00006
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00005
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met) rs561318435 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000180.4(GUCY2D):c.3282G>A (p.Leu1094=) rs281865413 0.00004
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His) rs560270873 0.00003
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val) rs375259185 0.00003
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys) rs368799458 0.00002
NM_000180.4(GUCY2D):c.1518C>T (p.Thr506=) rs779132852 0.00002
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=) rs776298636 0.00002
NM_000180.4(GUCY2D):c.289G>C (p.Glu97Gln) rs61749667 0.00002
NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His) rs776083430 0.00002
NM_000180.4(GUCY2D):c.3273A>G (p.Arg1091=) rs375105072 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser) rs1029006549 0.00001
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro) rs766944930 0.00001
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln) rs751520851 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1750-7C>G rs918147589 0.00001
NM_000180.4(GUCY2D):c.1809del (p.Ala604fs) rs754431996 0.00001
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=) rs754581545 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2456C>T (p.Ser819Leu) rs777766926 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser) rs749432012 0.00001
NM_000180.4(GUCY2D):c.2837C>T (p.Ala946Val) rs61750180 0.00001
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182 0.00001
NM_000180.4(GUCY2D):c.3025A>C (p.Met1009Leu) rs61750188 0.00001
NM_000180.4(GUCY2D):c.3106C>T (p.Gln1036Ter) rs61750192 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu) rs138922415 0.00001
NM_000180.4(GUCY2D):c.755G>C (p.Gly252Ala) rs1415396885 0.00001
NM_000180.4(GUCY2D):c.812G>C (p.Gly271Ala) rs1343799941 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1008T>C (p.Ser336=) rs2151799778
NM_000180.4(GUCY2D):c.1026+172del rs61750197
NM_000180.4(GUCY2D):c.1084G>T (p.Ala362Ser) rs61749677
NM_000180.4(GUCY2D):c.1106G>A (p.Gly369Asp) rs2151800429
NM_000180.4(GUCY2D):c.1222G>A (p.Asp408Asn)
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1379-28A>G rs61749680
NM_000180.4(GUCY2D):c.1384G>C (p.Glu462Gln)
NM_000180.4(GUCY2D):c.1410C>A (p.Phe470Leu) rs2151800760
NM_000180.4(GUCY2D):c.1424_1431dup (p.Leu478fs) rs61749681
NM_000180.4(GUCY2D):c.1542C>A (p.His514Gln) rs2151800915
NM_000180.4(GUCY2D):c.1566+2T>C rs61749683
NM_000180.4(GUCY2D):c.156C>T (p.Ala52=)
NM_000180.4(GUCY2D):c.1615A>G (p.Ile539Val) rs61749753
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.1713A>G (p.Ile571Met) rs886043672
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp) rs770740012
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) rs63749078
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.1957-1G>A rs61749759
NM_000180.4(GUCY2D):c.1957-1G>T rs61749759
NM_000180.4(GUCY2D):c.1957G>A (p.Gly653Arg) rs61750160
NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs) rs61750163
NM_000180.4(GUCY2D):c.2080C>A (p.Gln694Lys) rs61750164
NM_000180.4(GUCY2D):c.2113+34G>A
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu) rs750153057
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
NM_000180.4(GUCY2D):c.2237A>G (p.Tyr746Cys) rs61750166
NM_000180.4(GUCY2D):c.2248G>T (p.Glu750Ter) rs61750167
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2317A>C (p.Met773Leu) rs61750169
NM_000180.4(GUCY2D):c.2335G>T (p.Glu779Ter) rs541299023
NM_000180.4(GUCY2D):c.2346C>A (p.Leu782=) rs61750170
NM_000180.4(GUCY2D):c.2384G>T (p.Arg795Leu) rs61750171
NM_000180.4(GUCY2D):c.238_252del (p.Ala80_Leu84del) rs952193754
NM_000180.4(GUCY2D):c.2465G>C (p.Arg822Pro) rs398123233
NM_000180.4(GUCY2D):c.2491C>T (p.Leu831=) rs771641368
NM_000180.4(GUCY2D):c.2504T>G (p.Ile835Ser) rs794727085
NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp) rs28933695
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2552G>C (p.Arg851Pro) rs531982313
NM_000180.4(GUCY2D):c.2566A>G (p.Met856Val) rs61750175
NM_000180.4(GUCY2D):c.2572C>T (p.Pro858Ser) rs61750176
NM_000180.4(GUCY2D):c.2594T>C (p.Leu865Ser) rs1555635796
NM_000180.4(GUCY2D):c.2687G>A (p.Ser896Asn)
NM_000180.4(GUCY2D):c.2745C>T (p.Ile915=) rs61750177
NM_000180.4(GUCY2D):c.2749G>C (p.Gly917Arg) rs61750178
NM_000180.4(GUCY2D):c.2784G>A (p.Gly928=)
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg) rs1975945188
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2936T>C (p.Leu979Pro) rs1555635874
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2951G>A (p.Cys984Tyr) rs61750186
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.4(GUCY2D):c.3009C>T (p.Val1003=) rs1322441705
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3043+4A>T rs61750189
NM_000180.4(GUCY2D):c.3055C>A (p.His1019Asn) rs61750190
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) rs281865411
NM_000180.4(GUCY2D):c.3108G>T (p.Gln1036His) rs61750193
NM_000180.4(GUCY2D):c.3118C>G (p.Arg1040Gly) rs61750194
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.3139-1G>C rs12602083
NM_000180.4(GUCY2D):c.314G>A (p.Cys105Tyr) rs61749669
NM_000180.4(GUCY2D):c.3206del (p.Pro1069fs) rs61750196
NM_000180.4(GUCY2D):c.3237_3238insCAAC (p.Gly1080fs) rs281865412
NM_000180.4(GUCY2D):c.3239G>T (p.Gly1080Val)
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.3282G>T (p.Leu1094=) rs281865413
NM_000180.4(GUCY2D):c.341T>C (p.Val114Ala) rs61750198
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) rs281865409
NM_000180.4(GUCY2D):c.416T>C (p.Leu139Pro) rs786205499
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=) rs794727237
NM_000180.4(GUCY2D):c.527T>C (p.Leu176Pro) rs786205500
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup) rs63749076
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter) rs768390959
NM_000180.4(GUCY2D):c.577C>T (p.Leu193=) rs61750199
NM_000180.4(GUCY2D):c.61_62inv (p.Trp21Gln)
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser) rs759280279
NM_000180.4(GUCY2D):c.779T>C (p.Leu260Pro) rs61749672
NM_000180.4(GUCY2D):c.799G>C (p.Gly267Arg) rs1975689200
NM_000180.4(GUCY2D):c.826del (p.Leu276fs) rs2151799674
NM_000180.4(GUCY2D):c.839C>G (p.Thr280Arg) rs868557040
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.974T>C (p.Leu325Pro) rs61749675

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