ClinVar Miner

List of variants reported by Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

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ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_001018057.2(DKK3):c.1013C>T (p.Ala338Val) rs114429255 0.01405
NM_001079539.2(XBP1):c.12_14dup (p.Ala7dup) rs528996789 0.00908
NM_198334.3(GANAB):c.925C>T (p.Arg309Cys) rs1063445 0.00691
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001079539.2(XBP1):c.44C>T (p.Pro15Leu) rs570172086 0.00317
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_198334.3(GANAB):c.1399G>A (p.Val467Ile) rs150463377 0.00090
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_004498.4(ONECUT1):c.805C>G (p.Arg269Gly) rs139802359 0.00060
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_198334.3(GANAB):c.2173G>A (p.Val725Ile) rs199956781 0.00039
NM_002336.3(LRP6):c.4436C>T (p.Thr1479Ile) rs144175121 0.00038
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_002336.3(LRP6):c.3130G>A (p.Asp1044Asn) rs140182370 0.00034
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_001018057.2(DKK3):c.611A>G (p.Asn204Ser) rs199563886 0.00024
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp) rs746231889 0.00022
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_002336.3(LRP6):c.3406C>T (p.Arg1136Trp) rs140962861 0.00017
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635 0.00015
NM_001789.3(CDC25A):c.968A>G (p.Lys323Arg) rs202026442 0.00014
NM_002336.3(LRP6):c.2599A>G (p.Thr867Ala) rs141458215 0.00014
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575 0.00013
NM_001789.3(CDC25A):c.263C>T (p.Ser88Phe) rs3731499 0.00012
NM_002335.4(LRP5):c.2724C>G (p.His908Gln) rs143539498 0.00011
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu) rs80291963 0.00009
NM_004498.4(ONECUT1):c.242G>A (p.Gly81Asp) rs142641519 0.00009
NM_004852.3(ONECUT2):c.491C>G (p.Ser164Cys) rs200319925 0.00009
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) rs772219802 0.00009
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His) rs373643848 0.00008
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_002335.4(LRP5):c.4096G>A (p.Asp1366Asn) rs779534615 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro) rs782531869 0.00006
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782 0.00005
NM_001789.3(CDC25A):c.1046C>T (p.Thr349Ile) rs201430835 0.00004
NM_001789.3(CDC25A):c.1124A>G (p.Asn375Ser) rs565583599 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_002336.3(LRP6):c.4376C>G (p.Pro1459Arg) rs376248000 0.00004
NM_002336.3(LRP6):c.615C>A (p.Phe205Leu) rs148780507 0.00004
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter) rs533704173 0.00004
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser) rs751325113 0.00004
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu) rs886061620 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met) rs541552030 0.00003
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_175914.5(HNF4A):c.50-3462C>T rs757731931 0.00003
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met) rs748496650 0.00002
NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys) rs201778105 0.00002
NM_002335.4(LRP5):c.4225C>T (p.Arg1409Cys) rs759834541 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_198334.3(GANAB):c.323C>T (p.Pro108Leu) rs200232092 0.00002
NM_001009944.3(PKD1):c.12632A>C (p.Glu4211Ala) rs2091400377 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.3962C>T (p.Pro1321Leu) rs779379060 0.00001
NM_001289104.2(PRKCSH):c.188A>C (p.Asp63Ala) rs1969752491 0.00001
NM_001289104.2(PRKCSH):c.76_79+4dup rs1969723330 0.00001
NM_001289104.2(PRKCSH):c.96T>G (p.Asp32Glu) rs778138658 0.00001
NM_001904.4(CTNNB1):c.2189G>A (p.Gly730Asp) rs2078513943 0.00001
NM_002335.4(LRP5):c.1948A>G (p.Thr650Ala) rs756999448 0.00001
NM_002335.4(LRP5):c.2648A>G (p.Gln883Arg) rs2098660959 0.00001
NM_002335.4(LRP5):c.4402G>A (p.Gly1468Ser) rs764802790 0.00001
NM_002335.4(LRP5):c.441G>C (p.Trp147Cys) rs748347747 0.00001
NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn) rs724159827 0.00001
NM_002336.3(LRP6):c.1573C>G (p.Arg525Gly) rs1451948552 0.00001
NM_002336.3(LRP6):c.2107G>A (p.Gly703Ser) rs754570231 0.00001
NM_004852.3(ONECUT2):c.676C>G (p.Pro226Ala) rs777194115 0.00001
NM_004852.3(ONECUT2):c.928C>T (p.Pro310Ser) rs1297497235 0.00001
NM_007214.5(SEC63):c.2006_2007del (p.His669fs) rs1403483213 0.00001
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter) rs768568123 0.00001
NM_007214.5(SEC63):c.452+1G>A rs869312977 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys) rs774865280 0.00001
NM_138694.4(PKHD1):c.422A>G (p.Gln141Arg) rs202133636 0.00001
NM_138694.4(PKHD1):c.4475C>T (p.Ser1492Phe) rs775363465 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8231G>A (p.Gly2744Asp) rs1466429790 0.00001
NM_138694.4(PKHD1):c.9230G>C (p.Trp3077Ser) rs1250269841 0.00001
NM_175914.5(HNF4A):c.811A>G (p.Ile271Val) rs1270743847 0.00001
NM_198334.3(GANAB):c.382C>T (p.Leu128Phe) rs532590295 0.00001
Multiple alleles
NM_000268.4(NF2):c.204C>G (p.Ile68Met) rs747447569
NM_000297.4(PKD2):c.1027G>C (p.Glu343Gln) rs2110107239
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys) rs2110112018
NM_000297.4(PKD2):c.1205C>T (p.Thr402Ile) rs2110112190
NM_000297.4(PKD2):c.1290C>A (p.Asn430Lys) rs554608570
NM_000297.4(PKD2):c.1985del (p.Thr662fs) rs2110129653
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu) rs2110134005
NM_000297.4(PKD2):c.2125del (p.His709fs) rs2110137964
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe) rs749666891
NM_000297.4(PKD2):c.538dup (p.Leu180fs) rs1371793191
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter) rs1726258048
NM_000297.4(PKD2):c.605del (p.Gly202fs) rs2110089194
NM_000297.4(PKD2):c.620A>G (p.Glu207Gly) rs2110089221
NM_000297.4(PKD2):c.710-1G>A rs2110104725
NM_000297.4(PKD2):c.843G>C (p.Lys281Asn) rs1727333486
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter) rs1727413505
NM_000297.4(PKD2):c.950G>A (p.Gly317Glu) rs2110107072
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp) rs748416956
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11016+1G>A rs2151707040
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) rs866331895
NM_001009944.3(PKD1):c.11270-1G>A rs2151700092
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His) rs2151697614
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11712+1G>C rs2091571329
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs) rs2151675632
NM_001009944.3(PKD1):c.1278GGC[1] (p.Ala428del) rs724159824
NM_001009944.3(PKD1):c.1353dup (p.Val452fs) rs2151822325
NM_001009944.3(PKD1):c.1398_1403del (p.Trp467_Ile468del) rs2151820984
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer) rs2151813077
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro) rs2151826530
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter) rs763199691
NM_001009944.3(PKD1):c.302del (p.Asn101fs) rs2151826161
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.3(PKD1):c.359+3A>T rs2151826018
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala) rs2092501507
NM_001009944.3(PKD1):c.3955G>C (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter) rs534630703
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter) rs2151792059
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs) rs2151790507
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs) rs2151789316
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg) rs2151788244
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser) rs1567218351
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter) rs755972713
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.7065+2T>G rs2151783529
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs) rs2151772170
NM_001009944.3(PKD1):c.7844T>C (p.Leu2615Pro) rs2151769881
NM_001009944.3(PKD1):c.7969A>C (p.Thr2657Pro) rs557020044
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp) rs761060813
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs) rs2151754452
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9569-1G>C rs2151741177
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly) rs1596513913
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs) rs2151823406
NM_001018057.2(DKK3):c.1006dup (p.Glu336fs) rs2134978784
NM_001018057.2(DKK3):c.647C>T (p.Pro216Leu) rs371921208
NM_001079539.2(XBP1):c.95C>T (p.Ala32Val) rs1394430611
NM_001289104.2(PRKCSH):c.1290C>A (p.Tyr430Ter) rs121918520
NM_001289104.2(PRKCSH):c.1462-1G>T rs879147040
NM_001289104.2(PRKCSH):c.228C>G (p.His76Gln) rs2144807765
NM_001289104.2(PRKCSH):c.362G>T (p.Arg121Leu) rs377537927
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001289104.2(PRKCSH):c.430_432delinsAATAAGG (p.Leu144fs) rs2144822009
NM_001289104.2(PRKCSH):c.464A>G (p.Lys155Arg) rs2144822186
NM_001289104.2(PRKCSH):c.487C>T (p.Gln163Ter) rs2144826022
NM_001289104.2(PRKCSH):c.781A>T (p.Thr261Ser) rs1156928058
NM_001289104.2(PRKCSH):c.988G>A (p.Glu330Lys) rs1397015529
NM_001904.4(CTNNB1):c.1456C>T (p.Arg486Cys) rs113411271
NM_001904.4(CTNNB1):c.2317C>A (p.Gln773Lys) rs779955747
NM_002335.4(LRP5):c.1136A>C (p.Asp379Ala) rs2153153124
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) rs373910016
NM_002335.4(LRP5):c.3468G>C (p.Gln1156His) rs724159825
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.3916G>T (p.Ala1306Ser) rs748395267
NM_002335.4(LRP5):c.441G>T (p.Trp147Cys) rs748347747
NM_002335.4(LRP5):c.4587G>C (p.Arg1529Ser) rs724159826
NM_002336.3(LRP6):c.1426C>G (p.Leu476Val) rs2136988022
NM_002336.3(LRP6):c.1603A>G (p.Ile535Val) rs1862848708
NM_002336.3(LRP6):c.3025A>G (p.Ser1009Gly) rs2136915109
NM_002336.3(LRP6):c.458A>G (p.Tyr153Cys) rs2137042982
NM_002729.5(HHEX):c.17C>G (p.Pro6Arg) rs1014685241
NM_004852.3(ONECUT2):c.940C>T (p.Arg314Trp) rs764014713
NM_007214.5(SEC63):c.105G>A (p.Trp35Ter) rs1011931149
NM_007214.5(SEC63):c.1118_1126del (p.Ala373_Gln375del) rs2114443516
NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro) rs1787041288
NM_007214.5(SEC63):c.1249G>T (p.Glu417Ter) rs1787002281
NM_007214.5(SEC63):c.133C>T (p.Arg45Ter) rs2114487759
NM_007214.5(SEC63):c.1434_1435del (p.Met479fs) rs2114434218
NM_007214.5(SEC63):c.1577C>A (p.Ser526Ter) rs779331877
NM_007214.5(SEC63):c.1629G>C (p.Gln543His) rs2114426916
NM_007214.5(SEC63):c.1810A>T (p.Lys604Ter) rs2114406531
NM_007214.5(SEC63):c.1817_1821del (p.Asn606fs) rs2114406508
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter) rs2114403750
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter) rs768615942
NM_007214.5(SEC63):c.2026A>G (p.Thr676Ala) rs755716600
NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer) rs869312978
NM_007214.5(SEC63):c.359T>C (p.Ile120Thr) rs2114476499
NM_007214.5(SEC63):c.359_366del (p.Ile120fs) rs2114476485
NM_007214.5(SEC63):c.422del (p.Met141fs) rs2114476431
NM_007214.5(SEC63):c.502G>C (p.Asp168His) rs2114461992
NM_007214.5(SEC63):c.622G>C (p.Val208Leu) rs2114458613
NM_007214.5(SEC63):c.636G>A (p.Trp212Ter) rs2114454119
NM_007214.5(SEC63):c.646A>G (p.Ile216Val) rs2114454091
NM_007214.5(SEC63):c.693_694dup (p.Thr232fs) rs2114453997
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter) rs755795110
NM_007214.5(SEC63):c.958G>T (p.Glu320Ter) rs749842172
NM_007214.5(SEC63):c.964del (p.Gln322fs) rs2114447040
NM_013336.4(SEC61A1):c.706C>T (p.Arg236Cys) rs2107647591
NM_013336.4(SEC61A1):c.707G>A (p.Arg236His) rs2107647595
NM_018144.4(SEC61A2):c.508C>A (p.Gln170Lys) rs2131675164
NM_024079.5(ALG8):c.1501del (p.Ala500_Val501insTer)
NM_024079.5(ALG8):c.160C>T (p.Gln54Ter)
NM_024079.5(ALG8):c.272del (p.Asn91fs)
NM_024079.5(ALG8):c.371del (p.Cys124fs)
NM_024079.5(ALG8):c.460G>A (p.Gly154Arg)
NM_024079.5(ALG8):c.478+3A>G
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr) rs869025583
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs) rs1334145215
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter) rs2150413999
NM_138694.4(PKHD1):c.10727G>T (p.Trp3576Leu) rs2150413999
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.12076C>G (p.Gln4026Glu) rs780097121
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2285_2286del (p.Val762fs) rs2128193153
NM_138694.4(PKHD1):c.3310T>G (p.Ser1104Ala) rs1803317608
NM_138694.4(PKHD1):c.4346G>T (p.Gly1449Val) rs2128144126
NM_138694.4(PKHD1):c.6314A>G (p.Tyr2105Cys) rs2127666900
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7529C>A (p.Ser2510Tyr) rs1775373904
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter) rs1473182306
NM_138694.4(PKHD1):c.8776C>G (p.Arg2926Gly) rs757650951
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_152464.2(TMEM199):c.[376-1G>A];[40G>C]
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu) rs369488804
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del) rs750723025
NM_198334.3(GANAB):c.1259A>G (p.Asn420Ser) rs146956329
NM_198334.3(GANAB):c.1541A>C (p.Asn514Thr) rs1565094929
NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro) rs1465649718
NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys) rs1565093675
NM_198334.3(GANAB):c.1817C>G (p.Ala606Gly) rs1565093575
NM_198334.3(GANAB):c.1936+1G>C rs1565092899
NM_198334.3(GANAB):c.1940A>G (p.Asp647Gly) rs1565092566
NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter) rs1565088616
NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter) rs1210158408
NM_198334.3(GANAB):c.2636C>T (p.Pro879Leu) rs550777375
NM_198334.3(GANAB):c.38G>A (p.Arg13Gln) rs1565116806
NM_198334.3(GANAB):c.621del (p.Asp207fs) rs1565099895

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