ClinVar Miner

List of variants studied for hereditary sensory and autonomic neuropathy type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) rs162848 0.71313
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
NM_001365536.1(SCN9A):c.*2640G>A rs13396526 0.43246
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_001034850.3(RETREG1):c.*1012G>A rs26016 0.37107
NM_001034850.3(RETREG1):c.*206A>C rs32147 0.29733
NM_002977.3(SCN9A):c.-307G>T rs1881440 0.24356
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717 0.12980
NM_001365536.1(SCN9A):c.*2854T>C rs73017538 0.11196
NM_001365536.1(SCN9A):c.*1013C>T rs16851754 0.10746
NM_001365536.1(SCN9A):c.*1796C>T rs16851751 0.10742
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=) rs16868675 0.08069
NM_001365536.1(SCN9A):c.*2146G>C rs1062844 0.07204
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_001365536.1(SCN9A):c.*1774G>A rs114843828 0.06654
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001365536.1(SCN9A):c.*2297A>T rs75345520 0.06645
NM_001365536.1(SCN9A):c.688+13T>C rs74449889 0.04864
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_001365536.1(SCN9A):c.*129C>T rs16851759 0.03731
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr) rs61733811 0.03341
NM_001034850.3(RETREG1):c.*592G>A rs2401881 0.03326
NM_001365536.1(SCN9A):c.*1492C>G rs73017542 0.03296
NM_001365536.1(SCN9A):c.*2136C>G rs77050817 0.03222
NM_001365536.1(SCN9A):c.*1184T>G rs11902920 0.03035
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_001365536.1(SCN9A):c.*2540C>T rs58249489 0.01556
NM_001365536.1(SCN9A):c.*3038C>T rs115766730 0.01421
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_001365536.1(SCN9A):c.*235T>C rs140553451 0.01263
NM_001365536.1(SCN9A):c.*2155G>A rs77565541 0.01260
NM_001365536.1(SCN9A):c.*204G>A rs111510277 0.01227
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513 0.01144
NM_001365536.1(SCN9A):c.*958C>T rs143727895 0.00990
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=) rs61741225 0.00939
NM_001365536.1(SCN9A):c.-294T>C rs141521157 0.00704
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys) rs78314670 0.00642
NM_001365536.1(SCN9A):c.*377C>G rs115464654 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_001365536.1(SCN9A):c.*2323G>T rs142172527 0.00561
NM_001034850.3(RETREG1):c.*235C>A rs144074026 0.00551
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_001365536.1(SCN9A):c.*2662G>A rs149873320 0.00457
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175 0.00341
NM_001365536.1(SCN9A):c.*3426A>T rs186838828 0.00334
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001365536.1(SCN9A):c.*2226T>G rs141310425 0.00306
NM_001365536.1(SCN9A):c.-283G>C rs191091185 0.00301
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met) rs143878016 0.00296
NM_001034850.3(RETREG1):c.*1026T>C rs191157317 0.00294
NM_001365536.1(SCN9A):c.*124A>G rs201137748 0.00283
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001365536.1(SCN9A):c.*2312A>T rs185580193 0.00248
NM_001365536.1(SCN9A):c.*2212T>C rs200750861 0.00201
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001365536.1(SCN9A):c.*2228G>T rs200790957 0.00177
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001365536.1(SCN9A):c.*2344C>T rs200962814 0.00173
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411 0.00173
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_001365536.1(SCN9A):c.-277C>T rs201445594 0.00163
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_001365536.1(SCN9A):c.*1770A>C rs200353065 0.00115
NM_001365536.1(SCN9A):c.*785C>T rs181229506 0.00108
NM_001365536.1(SCN9A):c.*362C>T rs185832567 0.00092
NM_001365536.1(SCN9A):c.*2191G>A rs201184093 0.00091
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203 0.00077
NM_001034850.3(RETREG1):c.*1641A>G rs778191948 0.00068
NM_001365536.1(SCN9A):c.-126G>C rs200099565 0.00068
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 0.00061
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458 0.00059
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00059
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) rs200160858 0.00052
NM_001034850.3(RETREG1):c.6G>C (p.Ala2=) rs750740230 0.00049
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg) rs200560768 0.00048
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) rs202047865 0.00043
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_001365536.1(SCN9A):c.*3317A>G rs191667986 0.00039
NM_001365536.1(SCN9A):c.4399-14G>T rs112927502 0.00038
NM_001034850.3(RETREG1):c.380G>A (p.Arg127His) rs200871433 0.00036
NM_001365536.1(SCN9A):c.*159T>C rs201133173 0.00036
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725 0.00035
NM_001365536.1(SCN9A):c.*2222T>C rs199958892 0.00031
NM_001034850.3(RETREG1):c.*1169G>A rs914670182 0.00026
NM_001365536.1(SCN9A):c.*18A>G rs150401869 0.00026
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007 0.00025
NM_001034850.3(RETREG1):c.17C>T (p.Pro6Leu) rs894277583 0.00024
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439 0.00019
NM_018979.4(WNK1):c.*1904dup rs1555165765 0.00019
NM_001365536.1(SCN9A):c.3472+14T>C rs201979079 0.00017
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu) rs528532732 0.00016
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) rs202002028 0.00016
NM_001365536.1(SCN9A):c.*1417A>G rs201120940 0.00015
NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=) rs759739482 0.00014
NM_001365536.1(SCN9A):c.*2078C>T rs548072061 0.00014
NM_001365536.1(SCN9A):c.*408A>G rs201291538 0.00013
NM_001034850.3(RETREG1):c.1169C>T (p.Thr390Met) rs374082497 0.00011
NM_001365536.1(SCN9A):c.*410A>T rs200153085 0.00011
NM_001365536.1(SCN9A):c.2875-6A>G rs760470229 0.00011
NM_001034850.3(RETREG1):c.723A>G (p.Lys241=) rs746380834 0.00010
NM_001365536.1(SCN9A):c.*3204G>A rs201300071 0.00010
NM_001365536.1(SCN9A):c.965+13T>C rs772337722 0.00010
NM_001365536.1(SCN9A):c.*887T>C rs200611007 0.00009
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001034850.3(RETREG1):c.*853G>A rs886060392 0.00008
NM_001365536.1(SCN9A):c.213G>A (p.Val71=) rs200240989 0.00008
NM_001365536.1(SCN9A):c.*1383G>T rs896976419 0.00007
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611 0.00007
NM_001034850.3(RETREG1):c.*1235T>C rs372275936 0.00006
NM_001034850.3(RETREG1):c.*757G>A rs3804255 0.00006
NM_001034850.3(RETREG1):c.796C>T (p.Arg266Cys) rs368759467 0.00006
NM_001365536.1(SCN9A):c.*3053G>A rs199656729 0.00006
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) rs267607030 0.00006
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421 0.00006
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_018979.4(WNK1):c.2652G>A (p.Ala884=) rs142528714 0.00006
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) rs201995891 0.00006
NM_001034850.3(RETREG1):c.*1337A>C rs894112531 0.00005
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761 0.00005
NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile) rs757989638 0.00005
NM_001034850.3(RETREG1):c.*510A>T rs1456553866 0.00004
NM_001034850.3(RETREG1):c.264C>T (p.Ser88=) rs750040156 0.00004
NM_001034850.3(RETREG1):c.808+6T>C rs368052487 0.00004
NM_001365536.1(SCN9A):c.*125C>T rs200465050 0.00004
NM_001365536.1(SCN9A):c.*1357C>T rs200338267 0.00004
NM_001365536.1(SCN9A):c.-42T>C rs201915876 0.00004
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927 0.00004
NM_001365536.1(SCN9A):c.822A>G (p.Lys274=) rs199784484 0.00004
NM_002977.3(SCN9A):c.-348G>C rs1051254799 0.00004
NM_001034850.3(RETREG1):c.841A>G (p.Ser281Gly) rs1430719865 0.00003
NM_001365536.1(SCN9A):c.*1605T>C rs199848927 0.00003
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) rs755653914 0.00003
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=) rs121908916 0.00003
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu) rs765818027 0.00003
NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg) rs529032048 0.00003
NM_001034850.3(RETREG1):c.*1170A>G rs184543943 0.00002
NM_001034850.3(RETREG1):c.*498G>A rs554300777 0.00002
NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg) rs1186811814 0.00002
NM_001365536.1(SCN9A):c.*2729C>A rs1313840276 0.00002
NM_001365536.1(SCN9A):c.*948G>A rs201415802 0.00002
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300 0.00002
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692 0.00002
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489 0.00002
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=) rs199572382 0.00002
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys) rs200709311 0.00002
NM_018979.4(WNK1):c.*1060C>G rs533399537 0.00002
NM_001034850.3(RETREG1):c.1013C>T (p.Pro338Leu) rs886060395 0.00001
NM_001034850.3(RETREG1):c.321-10G>A rs539315640 0.00001
NM_001034850.3(RETREG1):c.442A>G (p.Arg148Gly) rs886060396 0.00001
NM_001034850.3(RETREG1):c.900G>A (p.Glu300=) rs368710242 0.00001
NM_001034850.3(RETREG1):c.94G>C (p.Ala32Pro) rs1377991492 0.00001
NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn) rs768320178 0.00001
NM_001365536.1(SCN9A):c.*164G>A rs1158330162 0.00001
NM_001365536.1(SCN9A):c.*1815T>C rs202203220 0.00001
NM_001365536.1(SCN9A):c.*217G>A rs200625860 0.00001
NM_001365536.1(SCN9A):c.*2721C>G rs199595958 0.00001
NM_001365536.1(SCN9A):c.*2860C>T rs200963393 0.00001
NM_001365536.1(SCN9A):c.*2986T>G rs201730339 0.00001
NM_001365536.1(SCN9A):c.*3094A>G rs1433503694 0.00001
NM_001365536.1(SCN9A):c.*3202T>C rs1015184575 0.00001
NM_001365536.1(SCN9A):c.*669A>G rs538508619 0.00001
NM_001365536.1(SCN9A):c.*835C>A rs199955941 0.00001
NM_001365536.1(SCN9A):c.-31G>A rs200780217 0.00001
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805 0.00001
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222 0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547 0.00001
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798 0.00001
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333 0.00001
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) rs201890077 0.00001
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) rs141040985 0.00001
NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile) rs765384427 0.00001
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr) rs1018959938 0.00001
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=) rs372210358 0.00001
NM_018979.4(WNK1):c.*2576_*2579dup rs886048832 0.00001
NM_018979.4(WNK1):c.5448+2dup rs774783305 0.00001
NM_001034850.2(RETREG1):c.-62C>A rs1459602794
NM_001034850.3(RETREG1):c.*1035T>C rs527314474
NM_001034850.3(RETREG1):c.*1160T>C rs886060390
NM_001034850.3(RETREG1):c.*123T>G rs886060393
NM_001034850.3(RETREG1):c.*1653G>A rs1738371371
NM_001034850.3(RETREG1):c.*219A>G rs372254630
NM_001034850.3(RETREG1):c.*455dup rs140982908
NM_001034850.3(RETREG1):c.*55del rs374572858
NM_001034850.3(RETREG1):c.*581T>C rs1055493479
NM_001034850.3(RETREG1):c.*71dup rs200951949
NM_001034850.3(RETREG1):c.*913G>T rs886060391
NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=) rs200156015
NM_001034850.3(RETREG1):c.10C>T (p.Pro4Ser) rs1420598605
NM_001034850.3(RETREG1):c.1300C>G (p.Gln434Glu) rs886060394
NM_001034850.3(RETREG1):c.160G>A (p.Gly54Arg) rs1743528602
NM_001034850.3(RETREG1):c.22G>A (p.Glu8Lys) rs759050645
NM_001034850.3(RETREG1):c.295T>C (p.Phe99Leu) rs1743520200
NM_001034850.3(RETREG1):c.670+8T>C rs1229368332
NM_001034850.3(RETREG1):c.6G>A (p.Ala2=) rs750740230
NM_001034850.3(RETREG1):c.76_81dup (p.Ser26_Pro27dup) rs886060397
NM_001034850.3(RETREG1):c.953C>A (p.Thr318Asn) rs368457852
NM_001034850.3(RETREG1):c.953C>T (p.Thr318Ile) rs368457852
NM_001244008.2(KIF1A):c.*1972del rs886055831
NM_001244008.2(KIF1A):c.*249dup rs886055835
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001365536.1(SCN9A):c.*1014G>A rs200393413
NM_001365536.1(SCN9A):c.*1422T>C rs1693272137
NM_001365536.1(SCN9A):c.*1643T>C rs1693265771
NM_001365536.1(SCN9A):c.*1660G>A rs16851753
NM_001365536.1(SCN9A):c.*1735C>A rs1693263246
NM_001365536.1(SCN9A):c.*2154C>G rs17804037
NM_001365536.1(SCN9A):c.*226A>C rs886055048
NM_001365536.1(SCN9A):c.*237C>G rs16851755
NM_001365536.1(SCN9A):c.*237C>T rs16851755
NM_001365536.1(SCN9A):c.*2677T>C rs1472041217
NM_001365536.1(SCN9A):c.*2928G>A rs199559478
NM_001365536.1(SCN9A):c.*2945C>A rs1693226507
NM_001365536.1(SCN9A):c.*3102C>T rs182687583
NM_001365536.1(SCN9A):c.*3282A>C rs139483482
NM_001365536.1(SCN9A):c.*900T>C rs200829562
NM_001365536.1(SCN9A):c.*920T>A rs201424899
NM_001365536.1(SCN9A):c.-290T>C rs148362057
NM_001365536.1(SCN9A):c.-92G>T rs569406301
NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) rs886055056
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) rs886055055
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn) rs369989247
NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His) rs1486841808
NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val) rs201744417
NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser) rs768587771
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) rs886055054
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) rs886055053
NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr) rs774490843
NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala) rs886055052
NM_001365536.1(SCN9A):c.3925-13T>C rs886055051
NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys) rs866428752
NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=) rs200610689
NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His) rs1693696549
NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His) rs199705100
NM_002977.3(SCN9A):c.-324C>A rs201905758
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
NM_018979.4(WNK1):c.*1132_*1133del rs546217405
NM_018979.4(WNK1):c.*1347del rs886048817
NM_018979.4(WNK1):c.*1722ATTA[1] rs561811313
NM_018979.4(WNK1):c.*1904CAC[5] rs778502996
NM_018979.4(WNK1):c.*2192_*2196dup rs568163399
NM_018979.4(WNK1):c.*2378_*2381dup rs1399161251
NM_018979.4(WNK1):c.*2615_*2618dup rs376351532
NM_018979.4(WNK1):c.*628del rs886048808
NM_018979.4(WNK1):c.*628dup rs886048808
NM_018979.4(WNK1):c.*654_*655del rs560549119
NM_018979.4(WNK1):c.*762CT[1] rs886048813
NM_018979.4(WNK1):c.*772_*776del rs886048815
NM_018979.4(WNK1):c.-308G>T rs886049861
NM_018979.4(WNK1):c.-351dup rs886049860
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
NM_018979.4(WNK1):c.5370G>T (p.Gln1790His) rs773797682

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