ClinVar Miner

List of variants studied for Kleefstra syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 291
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HGVS dbSNP
NC_000009.11:g.(?_140605399)_(140652483_?)dup
NC_000009.11:g.(?_140657107)_(140685442_?)dup
NC_000009.11:g.(?_140695312)_(140729425_?)dup
NC_000009.11:g.(?_140728781)_(140729425_?)dup
NC_000009.12:g.137743962_137743963dup
NC_000009.12:g.137798873C>T
NM_001077482.2(NR1I3):c.740T>C (p.Phe247Ser) rs398122411
NM_002571.4(PAEP):c.311-444_*248del
NM_024757.4(EHMT1):c.*1179G>T rs533483370
NM_024757.5(EHMT1):c.*1018T>G rs542383104
NM_024757.5(EHMT1):c.*1025T>G rs562175291
NM_024757.5(EHMT1):c.*1025dup rs201292825
NM_024757.5(EHMT1):c.*17G>A rs886063744
NM_024757.5(EHMT1):c.*204C>T rs886063745
NM_024757.5(EHMT1):c.*226G>A rs571061996
NM_024757.5(EHMT1):c.*551T>G rs886063746
NM_024757.5(EHMT1):c.*663G>A rs750578794
NM_024757.5(EHMT1):c.*667C>T rs79878790
NM_024757.5(EHMT1):c.*870T>G rs756114316
NM_024757.5(EHMT1):c.*971dup rs563102749
NM_024757.5(EHMT1):c.100G>A (p.Ala34Thr)
NM_024757.5(EHMT1):c.102C>T (p.Ala34=) rs202208554
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768
NM_024757.5(EHMT1):c.1089_1090inv (p.Ala364Thr)
NM_024757.5(EHMT1):c.1100C>T (p.Ala367Val)
NM_024757.5(EHMT1):c.1133C>T (p.Ser378Phe) rs780462689
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748
NM_024757.5(EHMT1):c.1149G>A (p.Ser383=) rs140345462
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.5(EHMT1):c.1176C>T (p.Asp392=) rs373083497
NM_024757.5(EHMT1):c.1177G>T (p.Gly393Trp) rs772187480
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152
NM_024757.5(EHMT1):c.1202C>A (p.Ser401Tyr) rs1554863573
NM_024757.5(EHMT1):c.1222G>C (p.Glu408Gln) rs1564693239
NM_024757.5(EHMT1):c.1249-11T>C rs561072157
NM_024757.5(EHMT1):c.1249-2A>G rs1564697048
NM_024757.5(EHMT1):c.1249-9G>T rs73669157
NM_024757.5(EHMT1):c.1265T>G (p.Ile422Ser) rs1564697100
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677
NM_024757.5(EHMT1):c.128C>T (p.Ala43Val)
NM_024757.5(EHMT1):c.128_129delinsGT (p.Ala43Gly) rs386739686
NM_024757.5(EHMT1):c.1299C>T (p.Thr433=) rs374367377
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.1337G>A (p.Arg446Gln) rs745964626
NM_024757.5(EHMT1):c.1360G>A (p.Gly454Ser) rs774046148
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.1369+9C>T rs146125583
NM_024757.5(EHMT1):c.1382A>G (p.Tyr461Cys) rs576338391
NM_024757.5(EHMT1):c.13_21+153del rs1564509503
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707
NM_024757.5(EHMT1):c.1412C>T (p.Thr471Met)
NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs) rs137852715
NM_024757.5(EHMT1):c.1414G>A (p.Ala472Thr)
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713
NM_024757.5(EHMT1):c.1434_1435del (p.Tyr479fs) rs1554867189
NM_024757.5(EHMT1):c.1456_1457delinsAA (p.Ser486Asn) rs1564704339
NM_024757.5(EHMT1):c.145G>T (p.Ala49Ser) rs1372403007
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.5(EHMT1):c.1495del (p.Ala499fs) rs1564704457
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)
NM_024757.5(EHMT1):c.1501+13G>T rs3125794
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592
NM_024757.5(EHMT1):c.1513G>A (p.Gly505Ser) rs757679895
NM_024757.5(EHMT1):c.1529_1532AGAC[1] (p.Asp512fs) rs137852716
NM_024757.5(EHMT1):c.153C>T (p.Asp51=) rs765396242
NM_024757.5(EHMT1):c.154G>A (p.Gly52Ser)
NM_024757.5(EHMT1):c.1583A>G (p.Lys528Arg)
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser)
NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277
NM_024757.5(EHMT1):c.1661C>A (p.Thr554Lys)
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373
NM_024757.5(EHMT1):c.176A>G (p.Glu59Gly) rs1422691901
NM_024757.5(EHMT1):c.1792-9C>A rs1554878665
NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter) rs137852717
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu)
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn)
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762
NM_024757.5(EHMT1):c.1931A>C (p.Lys644Thr) rs767536068
NM_024757.5(EHMT1):c.193_198dup (p.Ser65_His66dup) rs756643740
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806
NM_024757.5(EHMT1):c.1983G>A (p.Ser661=) rs143204067
NM_024757.5(EHMT1):c.2015G>A (p.Gly672Asp)
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132
NM_024757.5(EHMT1):c.2028dup (p.Pro677fs) rs1554879411
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496
NM_024757.5(EHMT1):c.2096C>T (p.Thr699Met)
NM_024757.5(EHMT1):c.21+10G>C rs1040872282
NM_024757.5(EHMT1):c.2127C>T (p.Pro709=) rs150501660
NM_024757.5(EHMT1):c.2142A>G (p.Gly714=) rs758845539
NM_024757.5(EHMT1):c.2167G>A (p.Ala723Thr) rs886063736
NM_024757.5(EHMT1):c.2175C>T (p.Ile725=) rs527754873
NM_024757.5(EHMT1):c.217A>G (p.Thr73Ala)
NM_024757.5(EHMT1):c.2181C>T (p.Leu727=) rs377163037
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404
NM_024757.5(EHMT1):c.2192+11A>T rs759729046
NM_024757.5(EHMT1):c.2193-1G>C rs137852720
NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu)
NM_024757.5(EHMT1):c.2214_2230dup (p.Phe744fs) rs1554880275
NM_024757.5(EHMT1):c.2224del (p.Leu742fs) rs1564744631
NM_024757.5(EHMT1):c.224A>G (p.Asp75Gly)
NM_024757.5(EHMT1):c.2280C>T (p.Asp760=) rs372779658
NM_024757.5(EHMT1):c.2347G>T (p.Ala783Ser) rs1564751310
NM_024757.5(EHMT1):c.234G>C (p.Arg78Ser)
NM_024757.5(EHMT1):c.2382+5G>A
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530
NM_024757.5(EHMT1):c.240C>T (p.Asn80=) rs752561133
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750
NM_024757.5(EHMT1):c.248A>G (p.Asp83Gly) rs770735510
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) rs1554888939
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937
NM_024757.5(EHMT1):c.2596G>A (p.Val866Ile) rs749645029
NM_024757.5(EHMT1):c.2608-3C>T rs1231552364
NM_024757.5(EHMT1):c.2616A>G (p.Gly872=) rs779277999
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554
NM_024757.5(EHMT1):c.2656G>A (p.Val886Met) rs146269774
NM_024757.5(EHMT1):c.2664C>T (p.Leu888=) rs200849773
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp)
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.2712+13C>T rs370446866
NM_024757.5(EHMT1):c.2712C>T (p.Asn904=)
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902
NM_024757.5(EHMT1):c.2739G>A (p.Ala913=) rs764507326
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028
NM_024757.5(EHMT1):c.276G>A (p.Ala92=) rs376810828
NM_024757.5(EHMT1):c.2779G>A (p.Ala927Thr)
NM_024757.5(EHMT1):c.2799C>T (p.His933=) rs573774002
NM_024757.5(EHMT1):c.2808C>T (p.Asn936=) rs553009659
NM_024757.5(EHMT1):c.2861_2862GT[1] (p.Val955fs) rs137852721
NM_024757.5(EHMT1):c.2864T>C (p.Val955Ala)
NM_024757.5(EHMT1):c.2865C>T (p.Val955=) rs749354858
NM_024757.5(EHMT1):c.2868-1G>A rs137852722
NM_024757.5(EHMT1):c.2873_2876TTCT[1] (p.Ser960fs) rs786205129
NM_024757.5(EHMT1):c.2882G>A (p.Arg961Gln) rs886063737
NM_024757.5(EHMT1):c.290C>T (p.Ser97Leu)
NM_024757.5(EHMT1):c.2921C>T (p.Thr974Met)
NM_024757.5(EHMT1):c.2922G>A (p.Thr974=) rs748716122
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)
NM_024757.5(EHMT1):c.2937G>A (p.Ala979=) rs564664932
NM_024757.5(EHMT1):c.2948C>A (p.Ser983Tyr)
NM_024757.5(EHMT1):c.2962G>A (p.Ala988Thr)
NM_024757.5(EHMT1):c.2963C>T (p.Ala988Val) rs1554896118
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859
NM_024757.5(EHMT1):c.2994G>C (p.Ser998=) rs778296046
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3011G>T (p.Ser1004Ile)
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137
NM_024757.5(EHMT1):c.3035+3G>A rs765407306
NM_024757.5(EHMT1):c.3036G>C (p.Arg1012Ser) rs886063738
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) rs1429360126
NM_024757.5(EHMT1):c.3059G>A (p.Arg1020His) rs376628665
NM_024757.5(EHMT1):c.3082G>A (p.Ala1028Thr)
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244
NM_024757.5(EHMT1):c.3107G>T (p.Ser1036Ile) rs369941047
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482
NM_024757.5(EHMT1):c.3123C>G (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3148A>G (p.Met1050Val) rs1564811053
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.5(EHMT1):c.3173A>T (p.His1058Leu) rs1564811142
NM_024757.5(EHMT1):c.3180+10G>A rs113676865
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.3180+1G>T rs137852724
NM_024757.5(EHMT1):c.3181-80_3233del rs1554896943
NM_024757.5(EHMT1):c.3181-8C>T rs1554896993
NM_024757.5(EHMT1):c.3183C>T (p.Tyr1061=) rs1554896995
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=)
NM_024757.5(EHMT1):c.3214A>G (p.Asn1072Asp) rs886063739
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.5(EHMT1):c.3226G>A (p.Gly1076Ser)
NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter) rs137852725
NM_024757.5(EHMT1):c.324C>T (p.His108=) rs574402576
NM_024757.5(EHMT1):c.3253G>A (p.Asp1085Asn)
NM_024757.5(EHMT1):c.3258+14C>T rs886063740
NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp)
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818
NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) rs752508274
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_024757.5(EHMT1):c.3321C>T (p.His1107=) rs781426172
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile)
NM_024757.5(EHMT1):c.3356T>C (p.Val1119Ala)
NM_024757.5(EHMT1):c.336C>G (p.Asp112Glu) rs757250849
NM_024757.5(EHMT1):c.3374+3G>A
NM_024757.5(EHMT1):c.3375-15CT[2] rs112664025
NM_024757.5(EHMT1):c.3375-9A>C rs73578877
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933
NM_024757.5(EHMT1):c.3392A>G (p.Tyr1131Cys)
NM_024757.5(EHMT1):c.33G>A (p.Ala11=) rs754740754
NM_024757.5(EHMT1):c.3400C>T (p.Arg1134Trp)
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786
NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter) rs886037776
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=)
NM_024757.5(EHMT1):c.342T>C (p.Phe114=) rs1554846429
NM_024757.5(EHMT1):c.3462-14C>T rs186747522
NM_024757.5(EHMT1):c.349A>G (p.Thr117Ala)
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.3522C>T (p.Leu1174=) rs748135858
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.3562G>A (p.Asp1188Asn)
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del) rs1554908290
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.35G>T (p.Arg12Met) rs777999570
NM_024757.5(EHMT1):c.3611A>T (p.Glu1204Val) rs759840211
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) rs144352877
NM_024757.5(EHMT1):c.3641T>C (p.Met1214Thr) rs781134719
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114
NM_024757.5(EHMT1):c.3688C>T (p.Arg1230Cys)
NM_024757.5(EHMT1):c.3716+4C>T rs375271697
NM_024757.5(EHMT1):c.3716+9C>T rs777993644
NM_024757.5(EHMT1):c.3726T>C (p.Tyr1242=) rs1160822224
NM_024757.5(EHMT1):c.3732G>C (p.Glu1244Asp)
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498
NM_024757.5(EHMT1):c.3747C>T (p.Ile1249=) rs1554908854
NM_024757.5(EHMT1):c.3758T>C (p.Leu1253Pro)
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) rs773781896
NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=) rs371136319
NM_024757.5(EHMT1):c.3791G>A (p.Arg1264Gln)
NM_024757.5(EHMT1):c.37G>A (p.Gly13Arg)
NM_024757.5(EHMT1):c.3803C>G (p.Ala1268Gly) rs886063741
NM_024757.5(EHMT1):c.3818G>A (p.Arg1273His) rs1564847357
NM_024757.5(EHMT1):c.3833_3841CCCAGGAGG[3] (p.1278_1280AQE[3])
NM_024757.5(EHMT1):c.3834C>A (p.Ala1278=) rs886063742
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408
NM_024757.5(EHMT1):c.3883G>T (p.Ala1295Ser)
NM_024757.5(EHMT1):c.3884C>T (p.Ala1295Val) rs1225363386
NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) rs886063743
NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu) rs925532395
NM_024757.5(EHMT1):c.390G>T (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.391del (p.Ala131fs) rs797045043
NM_024757.5(EHMT1):c.396_397delinsTG (p.Gln133Glu) rs1554846569
NM_024757.5(EHMT1):c.405G>T (p.Gln135His) rs200982880
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.437C>T (p.Ser146Leu) rs142652443
NM_024757.5(EHMT1):c.438G>A (p.Ser146=) rs151008340
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.5(EHMT1):c.444_445inv (p.Gly149Ser)
NM_024757.5(EHMT1):c.470G>A (p.Gly157Glu) rs1554846686
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.5(EHMT1):c.498C>T (p.Ser166=) rs146037252
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr) rs141282876
NM_024757.5(EHMT1):c.500C>A (p.Ala167Asp)
NM_024757.5(EHMT1):c.512C>T (p.Thr171Met)
NM_024757.5(EHMT1):c.514C>T (p.Pro172Ser)
NM_024757.5(EHMT1):c.526C>G (p.Pro176Ala)
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024757.5(EHMT1):c.533C>A (p.Thr178Asn) rs777497639
NM_024757.5(EHMT1):c.538G>T (p.Gly180Trp)
NM_024757.5(EHMT1):c.546G>T (p.Gly182=) rs767742300
NM_024757.5(EHMT1):c.551C>T (p.Ala184Val) rs886063735
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
NM_024757.5(EHMT1):c.586G>A (p.Ala196Thr)
NM_024757.5(EHMT1):c.610C>T (p.Arg204Cys) rs773281923
NM_024757.5(EHMT1):c.624G>A (p.Pro208=) rs759629407
NM_024757.5(EHMT1):c.631G>A (p.Val211Ile) rs201528122
NM_024757.5(EHMT1):c.633C>T (p.Val211=) rs751159756
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.674G>A (p.Arg225Gln)
NM_024757.5(EHMT1):c.676G>A (p.Glu226Lys) rs1554852591
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446
NM_024757.5(EHMT1):c.737G>C (p.Arg246Pro)
NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg)
NM_024757.5(EHMT1):c.770A>G (p.His257Arg)
NM_024757.5(EHMT1):c.85+9G>A rs566701810
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_024757.5(EHMT1):c.900T>C (p.Pro300=) rs1554858785
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320
NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu)
NM_024757.5(EHMT1):c.932C>T (p.Thr311Met) rs142727972
NM_024757.5(EHMT1):c.95T>C (p.Met32Thr) rs1564627371
NM_024757.5(EHMT1):c.985G>C (p.Glu329Gln) rs538516467

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