ClinVar Miner

List of variants reported as uncertain significance for RASopathy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 359
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HGVS dbSNP
NM_000267.3(NF1):c.*1202A>C rs886052807
NM_000267.3(NF1):c.*1425C>T rs886052808
NM_000267.3(NF1):c.*1446T>C rs886052809
NM_000267.3(NF1):c.*1899A>G rs547663480
NM_000267.3(NF1):c.*1987C>T rs886052810
NM_000267.3(NF1):c.*2071G>A rs886052811
NM_000267.3(NF1):c.*2132T>C rs551806545
NM_000267.3(NF1):c.*2566C>T rs545937364
NM_000267.3(NF1):c.*2638_*2646delinsTTATG rs886052813
NM_000267.3(NF1):c.*2777C>A rs185015732
NM_000267.3(NF1):c.*2884T>A rs886052814
NM_000267.3(NF1):c.*3091A>C rs570154156
NM_000267.3(NF1):c.*3174A>C rs886052815
NM_000267.3(NF1):c.*3248G>A rs527971565
NM_000267.3(NF1):c.*3266G>A rs548117626
NM_000267.3(NF1):c.*3514G>C rs574282086
NM_000267.3(NF1):c.*506T>A rs886052804
NM_000267.3(NF1):c.*584G>T rs190144445
NM_000267.3(NF1):c.*871del rs759306393
NM_000267.3(NF1):c.*873_*874dupAT rs369548314
NM_000267.3(NF1):c.*875T>A rs886052806
NM_000267.3(NF1):c.-115T>C rs886052793
NM_000267.3(NF1):c.-148C>A rs886052792
NM_000267.3(NF1):c.-173C>G rs886052791
NM_000267.3(NF1):c.-209C>A rs886052790
NM_000267.3(NF1):c.-229C>G rs886052789
NM_000267.3(NF1):c.-237C>T rs878967255
NM_000267.3(NF1):c.-237dup rs886052788
NM_000267.3(NF1):c.-242dup rs886052787
NM_000267.3(NF1):c.-248_-247dup rs886052786
NM_000267.3(NF1):c.-249_-247dup rs886052786
NM_000267.3(NF1):c.-322G>A rs886052785
NM_000267.3(NF1):c.-73G>T rs886052795
NM_000267.3(NF1):c.-84C>T rs886052794
NM_000267.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871
NM_000267.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_000267.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_000267.3(NF1):c.1846-8T>A rs886052799
NM_000267.3(NF1):c.205-13T>A rs886052797
NM_000267.3(NF1):c.2794A>G (p.Met932Val) rs886052800
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.4467A>G (p.Leu1489=) rs876660089
NM_000267.3(NF1):c.4661+11A>G rs368649260
NM_000267.3(NF1):c.4686A>G (p.Glu1562=) rs144091165
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.6492G>A (p.Arg2164=) rs786203189
NM_000267.3(NF1):c.6567G>A (p.Leu2189=) rs886052801
NM_000267.3(NF1):c.6944C>A (p.Ala2315Glu) rs886052802
NM_000267.3(NF1):c.6963G>A (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.7183C>T (p.Leu2395=) rs786201310
NM_000267.3(NF1):c.730+16dup rs373999174
NM_000267.3(NF1):c.7462C>T (p.Pro2488Ser) rs886052803
NM_000267.3(NF1):c.7704G>C (p.Gln2568His) rs587782168
NM_000267.3(NF1):c.7807-8C>A rs372441422
NM_000267.3(NF1):c.799_802del (p.Trp267fs) rs1567826683
NM_000267.3(NF1):c.8076dup (p.Phe2693fs) rs1567628013
NM_000267.3(NF1):c.8436T>C (p.Asn2812=) rs142636150
NM_001320141.2(RPL6):c.-326C>G rs377496292
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*111A>G rs188272768
NM_002524.5(NRAS):c.*1382G>T rs886045105
NM_002524.5(NRAS):c.*1643G>C rs571329214
NM_002524.5(NRAS):c.*1656C>T rs886045104
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.*2327C>T rs533027827
NM_002524.5(NRAS):c.*2464A>G rs140878667
NM_002524.5(NRAS):c.*2513T>A rs150969241
NM_002524.5(NRAS):c.*2546C>T rs778203603
NM_002524.5(NRAS):c.*2630G>A rs886045102
NM_002524.5(NRAS):c.*2677A>T rs886045101
NM_002524.5(NRAS):c.*2714G>T rs886045100
NM_002524.5(NRAS):c.*2784T>A rs374889066
NM_002524.5(NRAS):c.*2805T>C rs776606789
NM_002524.5(NRAS):c.*2844T>A rs530053161
NM_002524.5(NRAS):c.*2860G>A rs886045099
NM_002524.5(NRAS):c.*3062C>T rs886045098
NM_002524.5(NRAS):c.*3392T>C rs886045097
NM_002524.5(NRAS):c.*3404T>C rs185234485
NM_002524.5(NRAS):c.*344A>G rs746680042
NM_002524.5(NRAS):c.*536C>T rs886045108
NM_002524.5(NRAS):c.*583T>G rs555171083
NM_002524.5(NRAS):c.*774A>G rs886045107
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.-106G>T rs755583487
NM_002524.5(NRAS):c.-50A>G rs61758211
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002755.3(MAP2K1):c.-220C>T rs886051365
NM_002755.3(MAP2K1):c.-405T>G rs886051363
NM_002755.3(MAP2K1):c.-456C>G rs886051362
NM_002755.3(MAP2K1):c.-461C>T rs886051361
NM_002755.3(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.3(MAP2K1):c.1068+9A>G rs368800650
NM_002755.3(MAP2K1):c.1069-12C>A rs781412352
NM_002755.3(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798
NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) rs150841154
NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002834.4(PTPN11):c.*1015C>G rs538946251
NM_002834.4(PTPN11):c.*1035A>G rs886048970
NM_002834.4(PTPN11):c.*1157_*1159ATG[13] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[16] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[17] rs80269561
NM_002834.4(PTPN11):c.*1332G>A rs886048973
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1536T>G rs371375321
NM_002834.4(PTPN11):c.*1588C>G rs886048974
NM_002834.4(PTPN11):c.*1729A>G rs886048975
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*1806G>A rs766598691
NM_002834.4(PTPN11):c.*1946G>A rs886048976
NM_002834.4(PTPN11):c.*2493C>T rs886048977
NM_002834.4(PTPN11):c.*2540G>T rs886048978
NM_002834.4(PTPN11):c.*2731G>A rs768622106
NM_002834.4(PTPN11):c.*2907A>C rs886048979
NM_002834.4(PTPN11):c.*2928A>T rs565075386
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*3231T>G rs769489372
NM_002834.4(PTPN11):c.*3244A>G rs763237386
NM_002834.4(PTPN11):c.*325G>A rs192080780
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*3300T>C rs886048980
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*3720T>C rs886048981
NM_002834.4(PTPN11):c.*4019C>T rs886048982
NM_002834.4(PTPN11):c.*41_*46del rs886048967
NM_002834.4(PTPN11):c.*50C>T rs730880328
NM_002834.4(PTPN11):c.*656del rs886048968
NM_002834.4(PTPN11):c.*687C>T rs748512308
NM_002834.4(PTPN11):c.*740C>T rs886048969
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.-139G>A rs886048964
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.4(PTPN11):c.-245C>G rs886048963
NM_002834.4(PTPN11):c.14+8G>T rs886048965
NM_002834.4(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.853+8T>C rs886048966
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002880.3(RAF1):c.*113T>G rs886057914
NM_002880.3(RAF1):c.*162T>C rs886057913
NM_002880.3(RAF1):c.*190G>A rs528863135
NM_002880.3(RAF1):c.*495C>T rs12808
NM_002880.3(RAF1):c.*556G>A rs187286358
NM_002880.3(RAF1):c.*606A>G rs556460176
NM_002880.3(RAF1):c.*627C>T rs879160471
NM_002880.3(RAF1):c.*640T>C rs759464247
NM_002880.3(RAF1):c.*745_*748delAACA rs371820097
NM_002880.3(RAF1):c.*745_*748dupAACA rs371820097
NM_002880.3(RAF1):c.-110G>A rs886057917
NM_002880.3(RAF1):c.-139T>G rs886057918
NM_002880.3(RAF1):c.-146C>G rs886057919
NM_002880.3(RAF1):c.-181T>C rs886057920
NM_002880.3(RAF1):c.-204G>C rs547543588
NM_002880.3(RAF1):c.-267G>A rs116247741
NM_002880.3(RAF1):c.-27+7G>A rs886057916
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.*7T>C rs727502903
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-36dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.981-14C>A rs200002171
NM_004985.5(KRAS):c.*1205C>T rs574966178
NM_004985.5(KRAS):c.*1501G>A rs886049194
NM_004985.5(KRAS):c.*1631A>G rs763217196
NM_004985.5(KRAS):c.*1656A>G rs886049193
NM_004985.5(KRAS):c.*1705C>G rs539213224
NM_004985.5(KRAS):c.*1710G>A rs531344668
NM_004985.5(KRAS):c.*176C>T rs886049197
NM_004985.5(KRAS):c.*1772A>G rs886049192
NM_004985.5(KRAS):c.*1846del rs886049191
NM_004985.5(KRAS):c.*1891T>C rs886049190
NM_004985.5(KRAS):c.*193C>T rs150334904
NM_004985.5(KRAS):c.*2239A>G rs886049189
NM_004985.5(KRAS):c.*2270_*2271insC rs886049188
NM_004985.5(KRAS):c.*2325G>A rs886049187
NM_004985.5(KRAS):c.*2456G>A rs886049186
NM_004985.5(KRAS):c.*2484G>A rs779071703
NM_004985.5(KRAS):c.*2694C>T rs886049185
NM_004985.5(KRAS):c.*2971_*2974del rs886049184
NM_004985.5(KRAS):c.*3148C>T rs886049183
NM_004985.5(KRAS):c.*3202T>C rs886049182
NM_004985.5(KRAS):c.*3454T>C rs749403585
NM_004985.5(KRAS):c.*3499C>T rs886049181
NM_004985.5(KRAS):c.*3551C>G rs188922523
NM_004985.5(KRAS):c.*3645A>G rs529959450
NM_004985.5(KRAS):c.*3682_*3683dup rs142323886
NM_004985.5(KRAS):c.*370C>G rs886049196
NM_004985.5(KRAS):c.*3754_*3757del rs886049180
NM_004985.5(KRAS):c.*3915A>G rs886049179
NM_004985.5(KRAS):c.*4066del rs34719539
NM_004985.5(KRAS):c.*4074G>A rs886049177
NM_004985.5(KRAS):c.*4428G>C rs545014897
NM_004985.5(KRAS):c.*4483G>A rs577486152
NM_004985.5(KRAS):c.*4498T>C rs768891600
NM_004985.5(KRAS):c.*4522G>A rs886049176
NM_004985.5(KRAS):c.*538del rs756307694
NM_004985.5(KRAS):c.*550C>T rs566222739
NM_004985.5(KRAS):c.*59A>G rs886049198
NM_004985.5(KRAS):c.*765A>G rs886049195
NM_004985.5(KRAS):c.*865T>C rs559143985
NM_004985.5(KRAS):c.-128C>G rs886049199
NM_004985.5(KRAS):c.-160A>G rs727503111
NM_004985.5(KRAS):c.-176_-174CGG[4] rs886049200
NM_004985.5(KRAS):c.-180G>A rs886049201
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_004985.5(KRAS):c.389C>T (p.Ala130Val) rs730880473
NM_004985.5(KRAS):c.462T>C (p.Asp154=) rs779184057
NM_005633.3(SOS1):c.*1094_*1097delTTTG rs886056016
NM_005633.3(SOS1):c.*1224A>G rs886056015
NM_005633.3(SOS1):c.*1303C>A rs115153488
NM_005633.3(SOS1):c.*1309A>G rs145273962
NM_005633.3(SOS1):c.*1385A>G rs868000333
NM_005633.3(SOS1):c.*1516G>A rs550823381
NM_005633.3(SOS1):c.*1552T>A rs139679723
NM_005633.3(SOS1):c.*1589T>G rs886056014
NM_005633.3(SOS1):c.*1678C>A rs886056013
NM_005633.3(SOS1):c.*1684G>C rs886056012
NM_005633.3(SOS1):c.*1694del rs767903412
NM_005633.3(SOS1):c.*2048_*2050dup rs761591990
NM_005633.3(SOS1):c.*2063_*2066dup rs886056011
NM_005633.3(SOS1):c.*2208dup rs886056010
NM_005633.3(SOS1):c.*2218T>A rs886056009
NM_005633.3(SOS1):c.*223C>T rs886056022
NM_005633.3(SOS1):c.*2497G>A rs886056008
NM_005633.3(SOS1):c.*2503_*2506dup rs886056007
NM_005633.3(SOS1):c.*2983C>T rs190454003
NM_005633.3(SOS1):c.*298C>G rs886056021
NM_005633.3(SOS1):c.*3189_*3192del rs572584074
NM_005633.3(SOS1):c.*3416_*3417del rs200892895
NM_005633.3(SOS1):c.*3451A>T rs78411167
NM_005633.3(SOS1):c.*3463A>G rs886056006
NM_005633.3(SOS1):c.*3566_*3568del rs886056005
NM_005633.3(SOS1):c.*3725T>C rs72799430
NM_005633.3(SOS1):c.*3727G>C rs886056004
NM_005633.3(SOS1):c.*4023T>C rs1043800
NM_005633.3(SOS1):c.*4110C>A rs886056003
NM_005633.3(SOS1):c.*4221C>T rs565544523
NM_005633.3(SOS1):c.*4265A>G rs377303107
NM_005633.3(SOS1):c.*4C>T rs188849286
NM_005633.3(SOS1):c.*534C>T rs773935049
NM_005633.3(SOS1):c.*544C>T rs886056020
NM_005633.3(SOS1):c.*642T>C rs886056019
NM_005633.3(SOS1):c.*696G>A rs886056018
NM_005633.3(SOS1):c.*758A>T rs182650589
NM_005633.3(SOS1):c.*766del rs533720751
NM_005633.3(SOS1):c.*855G>A rs886056017
NM_005633.3(SOS1):c.*909G>A rs147219108
NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.3(SOS1):c.2121T>C (p.Asp707=) rs571408451
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.3(SOS1):c.3347-3C>T rs779326746
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.587C>T (p.Ser196Leu) rs199898869
NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.3(SOS1):c.865-4T>C rs750788947
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.929G>A (p.Arg310His) rs143481916
NM_006049.4(SNAPC5):c.22-143C>T rs886051367
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-512C>A rs886051368
NM_006049.4(SNAPC5):c.22-513C>A rs886051369
NM_006049.4(SNAPC5):c.22-678A>G rs770655370
NM_006049.4(SNAPC5):c.22-788T>C rs138560168
NM_006049.4(SNAPC5):c.22-795A>G rs548081932
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370
NM_007373.3(SHOC2):c.*1218C>T rs886046735
NM_007373.3(SHOC2):c.*1245T>C rs754913685
NM_007373.3(SHOC2):c.*1486dup rs549502834
NM_007373.3(SHOC2):c.*1487G>T rs7074770
NM_007373.3(SHOC2):c.*1575A>G rs886046736
NM_007373.3(SHOC2):c.*404A>G rs539394184
NM_007373.3(SHOC2):c.*518T>C rs886046731
NM_007373.3(SHOC2):c.*614T>G rs886046732
NM_007373.3(SHOC2):c.*625del rs886046733
NM_007373.3(SHOC2):c.*656C>G rs557334390
NM_007373.3(SHOC2):c.*958C>A rs372493479
NM_007373.3(SHOC2):c.-254C>T rs886046728
NM_007373.3(SHOC2):c.1239G>T (p.Gln413His) rs200215822
NM_007373.3(SHOC2):c.1284+15G>A rs770745229
NM_007373.3(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr) rs751292868
NM_007373.3(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_152594.3(SPRED1):c.*1337A>C rs570038934
NM_152594.3(SPRED1):c.*1400G>A rs886051109
NM_152594.3(SPRED1):c.*149G>A rs776485386
NM_152594.3(SPRED1):c.*1563C>T rs886051110
NM_152594.3(SPRED1):c.*1747A>C rs561525888
NM_152594.3(SPRED1):c.*1798A>C rs886051111
NM_152594.3(SPRED1):c.*1897C>T rs776375597
NM_152594.3(SPRED1):c.*2359G>C rs886051112
NM_152594.3(SPRED1):c.*2414del rs532033889
NM_152594.3(SPRED1):c.*2506_*2513del rs770258605
NM_152594.3(SPRED1):c.*2570T>C rs111997668
NM_152594.3(SPRED1):c.*2843A>C rs886051115
NM_152594.3(SPRED1):c.*3192G>A rs566065329
NM_152594.3(SPRED1):c.*3544G>A rs886051116
NM_152594.3(SPRED1):c.*3584G>A rs886051117
NM_152594.3(SPRED1):c.*3647T>G rs186366365
NM_152594.3(SPRED1):c.*4046G>A rs886051118
NM_152594.3(SPRED1):c.*4136_*4138ATT[1] rs369376164
NM_152594.3(SPRED1):c.*4472C>A rs541556786
NM_152594.3(SPRED1):c.*4725A>G rs530058944
NM_152594.3(SPRED1):c.*4744G>T rs886051120
NM_152594.3(SPRED1):c.*4781C>A rs886051121
NM_152594.3(SPRED1):c.*4822A>G rs576136057
NM_152594.3(SPRED1):c.*4948_*4949AT[1] rs886051122
NM_152594.3(SPRED1):c.*4987A>C rs886051123
NM_152594.3(SPRED1):c.*5202C>T rs541213700
NM_152594.3(SPRED1):c.*5232G>A rs886051124
NM_152594.3(SPRED1):c.*5346A>C rs886051125
NM_152594.3(SPRED1):c.*565A>C rs866578422
NM_152594.3(SPRED1):c.*578_*579AT[11] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[12] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[13] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[8] rs147547509
NM_152594.3(SPRED1):c.*810A>G rs886051108
NM_152594.3(SPRED1):c.-152C>A rs886051102
NM_152594.3(SPRED1):c.-191C>T rs556907443
NM_152594.3(SPRED1):c.-201G>A rs770231868
NM_152594.3(SPRED1):c.-294C>T rs886051100
NM_152594.3(SPRED1):c.-309C>T rs578173447
NM_152594.3(SPRED1):c.-87C>T rs886051103
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile) rs202092705
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys) rs200142785
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244
NM_152594.3(SPRED1):c.707A>G (p.His236Arg) rs886051104
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe) rs886051105
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772

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