ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins NTD LLC (GA) and "likely benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 252
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00157
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_001458.5(FLNC):c.2390-8C>G rs146063718 0.00057
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) rs200424851 0.00045
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00040
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614 0.00010
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_001267550.2(TTN):c.2760C>T (p.His920=) rs138788406 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) rs373667458 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=) rs72629789 0.00006
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) rs142077822 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458 0.00004
NM_004006.3(DMD):c.1848C>A (p.Ser616=) rs376024929 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000451.4(SHOX):c.723C>T (p.Phe241=) rs886042718 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) rs757252494 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=) rs878971586
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657

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