ClinVar Miner

List of variants in gene HSPB1 studied for Charcot-Marie-Tooth disease axonal type 2F

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_001540.4(HSPB1):c.-46C>T rs35907174 0.00569
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859 0.00486
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_001540.4(HSPB1):c.-56C>T rs35759978 0.00306
NM_001540.5(HSPB1):c.*22C>T rs557532119 0.00300
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861 0.00170
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178 0.00056
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625 0.00049
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668 0.00024
NM_001540.5(HSPB1):c.531C>T (p.Asn177=) rs754873919 0.00024
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324 0.00011
NM_001540.5(HSPB1):c.365-7C>G rs201897299 0.00011
NM_001540.5(HSPB1):c.428+13G>T rs553117142 0.00008
NM_001540.5(HSPB1):c.*116C>T rs368381742 0.00007
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=) rs140791936 0.00007
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_001540.5(HSPB1):c.174G>C (p.Leu58=) rs892258745 0.00006
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653 0.00006
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941 0.00005
NM_001540.5(HSPB1):c.45C>T (p.Ser15=) rs780878780 0.00005
NM_001540.5(HSPB1):c.537C>A (p.Ile179=) rs372981842 0.00005
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351 0.00004
NM_001540.5(HSPB1):c.39C>T (p.Gly13=) rs750588141 0.00004
NM_001540.5(HSPB1):c.417G>A (p.Thr139=) rs754991269 0.00004
NM_001540.5(HSPB1):c.225C>G (p.Arg75=) rs535398122 0.00003
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061 0.00003
NM_001540.5(HSPB1):c.333C>A (p.Val111=) rs1240082057 0.00003
NM_001540.5(HSPB1):c.364+10C>A rs577343607 0.00003
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001540.5(HSPB1):c.379C>A (p.Arg127=) rs29001571 0.00003
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser) rs1422978230 0.00003
NM_001540.5(HSPB1):c.70C>A (p.Pro24Thr) rs1414148792 0.00003
NM_001540.5(HSPB1):c.138A>G (p.Leu46=) rs757180608 0.00002
NM_001540.5(HSPB1):c.162C>T (p.Tyr54=) rs770285235 0.00002
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168 0.00002
NM_001540.5(HSPB1):c.321C>A (p.Asp107Glu) rs1433396777 0.00002
NM_001540.5(HSPB1):c.339C>G (p.Thr113=) rs751064405 0.00002
NM_001540.5(HSPB1):c.351G>A (p.Val117=) rs1279432561 0.00002
NM_001540.5(HSPB1):c.365-4A>G rs373485993 0.00002
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365 0.00002
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile) rs1173242313 0.00002
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753 0.00002
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn) rs147500292 0.00002
NM_001540.5(HSPB1):c.117G>A (p.Pro39=) rs752555764 0.00001
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys) rs1393404971 0.00001
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro) rs1346600366 0.00001
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser) rs546699221 0.00001
NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs) rs748762287 0.00001
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala) rs773864816 0.00001
NM_001540.5(HSPB1):c.198C>T (p.Pro66=) rs763909905 0.00001
NM_001540.5(HSPB1):c.21C>T (p.Pro7=) rs759998200 0.00001
NM_001540.5(HSPB1):c.226G>C (p.Ala76Pro) rs968191590 0.00001
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327 0.00001
NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln) rs926257693 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001540.5(HSPB1):c.253G>T (p.Val85Phe) rs773758650 0.00001
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020 0.00001
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022 0.00001
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser) rs767672401 0.00001
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser) rs761660005 0.00001
NM_001540.5(HSPB1):c.294C>T (p.Ser98=) rs1294648668 0.00001
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758 0.00001
NM_001540.5(HSPB1):c.33G>C (p.Leu11=) rs199712600 0.00001
NM_001540.5(HSPB1):c.349G>A (p.Val117Met) rs1803031652 0.00001
NM_001540.5(HSPB1):c.356A>T (p.Glu119Val) rs759984050 0.00001
NM_001540.5(HSPB1):c.365-5_365-4del rs752802110 0.00001
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala) rs766728475 0.00001
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) rs28939681 0.00001
NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys) rs1276548832 0.00001
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys) rs748414486 0.00001
NM_001540.5(HSPB1):c.429-3C>T rs1353004501 0.00001
NM_001540.5(HSPB1):c.429-7C>T rs375972376 0.00001
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749 0.00001
NM_001540.5(HSPB1):c.469C>T (p.Leu157=) rs759976500 0.00001
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs) rs1240900244 0.00001
NM_001540.5(HSPB1):c.47G>A (p.Trp16Ter) rs973126266 0.00001
NM_001540.5(HSPB1):c.491C>T (p.Thr164Ile) rs1193492001 0.00001
NM_001540.5(HSPB1):c.508C>A (p.Pro170Thr) rs544435502 0.00001
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023 0.00001
NM_001540.5(HSPB1):c.552C>T (p.Thr184=) rs1464655270 0.00001
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561 0.00001
NM_001540.5(HSPB1):c.570G>C (p.Gln190His) rs764297134 0.00001
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306 0.00001
NM_001540.5(HSPB1):c.91C>G (p.Gln31Glu) rs775728229 0.00001
NM_001540.5(HSPB1):c.99C>T (p.Phe33=) rs762032846 0.00001
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.13:g.(?_75932030)_(75933490_?)del
NC_000007.13:g.(?_75932030)_(75933490_?)dup
NC_000007.13:g.(?_75932366)_(75934037_?)del
NC_000007.13:g.(?_75933099)_(75933490_?)del
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NC_000007.14:g.(?_76303782)_(76304193_?)del
NC_000007.14:g.(?_76303789)_(76304183_?)del
NC_000007.14:g.(?_76303802)_(76304173_?)del
NM_001540.4(HSPB1):c.-122G>T rs553127513
NM_001540.4(HSPB1):c.-129G>T rs886062446
NM_001540.5(HSPB1):c.108C>G (p.Pro36=) rs765197724
NM_001540.5(HSPB1):c.109C>T (p.Arg37Trp)
NM_001540.5(HSPB1):c.112C>A (p.Leu38Met)
NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg)
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.118G>T (p.Glu40Ter)
NM_001540.5(HSPB1):c.119A>T (p.Glu40Val)
NM_001540.5(HSPB1):c.11G>A (p.Arg4His)
NM_001540.5(HSPB1):c.120G>A (p.Glu40=)
NM_001540.5(HSPB1):c.123G>A (p.Glu41=)
NM_001540.5(HSPB1):c.128C>G (p.Ser43Trp) rs950234286
NM_001540.5(HSPB1):c.129G>A (p.Ser43=) rs764071304
NM_001540.5(HSPB1):c.134G>A (p.Trp45Ter) rs753747742
NM_001540.5(HSPB1):c.136T>G (p.Leu46Val)
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.144C>A (p.Gly48=)
NM_001540.5(HSPB1):c.144C>T (p.Gly48=)
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile) rs1404212306
NM_001540.5(HSPB1):c.152G>A (p.Trp51Ter)
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter) rs769118115
NM_001540.5(HSPB1):c.155C>G (p.Pro52Arg)
NM_001540.5(HSPB1):c.159C>T (p.Gly53=) rs748696628
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser) rs1803021885
NM_001540.5(HSPB1):c.16G>T (p.Val6Phe)
NM_001540.5(HSPB1):c.171C>T (p.Pro57=) rs887152183
NM_001540.5(HSPB1):c.172del (p.Leu58fs) rs768456339
NM_001540.5(HSPB1):c.175C>T (p.Pro59Ser) rs763084460
NM_001540.5(HSPB1):c.177C>T (p.Pro59=)
NM_001540.5(HSPB1):c.179C>G (p.Pro60Arg) rs112075084
NM_001540.5(HSPB1):c.180C>T (p.Pro60=)
NM_001540.5(HSPB1):c.180del (p.Ala61fs) rs1064796370
NM_001540.5(HSPB1):c.180dup (p.Ala61fs) rs1064796370
NM_001540.5(HSPB1):c.181GCC[3] (p.Ala62dup) rs748560388
NM_001540.5(HSPB1):c.183C>T (p.Ala61=)
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro) rs1064796602
NM_001540.5(HSPB1):c.189C>T (p.Ile63=)
NM_001540.5(HSPB1):c.18C>G (p.Val6=)
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys) rs1803023708
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp) rs1803023868
NM_001540.5(HSPB1):c.196C>T (p.Pro66Ser)
NM_001540.5(HSPB1):c.199G>A (p.Ala67Thr)
NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser) rs1563651698
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu) rs200190722
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.5(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.208G>A (p.Ala70Thr)
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.223C>T (p.Arg75Cys)
NM_001540.5(HSPB1):c.225C>T (p.Arg75=)
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile) rs1803026258
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro) rs926257693
NM_001540.5(HSPB1):c.245_246insT (p.Ser83fs)
NM_001540.5(HSPB1):c.247A>T (p.Ser83Cys) rs1178583914
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) rs1563651975
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp) rs770272088
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu) rs1803027735
NM_001540.5(HSPB1):c.253G>A (p.Val85Ile) rs773758650
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met) rs1803028479
NM_001540.5(HSPB1):c.275C>T (p.Ala92Val) rs771014888
NM_001540.5(HSPB1):c.27G>T (p.Ser9=) rs1232413726
NM_001540.5(HSPB1):c.281G>A (p.Arg94His) rs776411885
NM_001540.5(HSPB1):c.293C>G (p.Ser98Cys)
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser) rs765142574
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.314C>A (p.Ala105Asp) rs2117158764
NM_001540.5(HSPB1):c.318G>A (p.Pro106=)
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.327G>A (p.Leu109=) rs112731839
NM_001540.5(HSPB1):c.329C>T (p.Thr110Met)
NM_001540.5(HSPB1):c.331G>A (p.Val111Ile) rs1803031093
NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln) rs1803031436
NM_001540.5(HSPB1):c.347G>A (p.Gly116Asp)
NM_001540.5(HSPB1):c.355_357del (p.Glu119del) rs1484884861
NM_001540.5(HSPB1):c.362C>G (p.Thr121Ser)
NM_001540.5(HSPB1):c.364+11C>G
NM_001540.5(HSPB1):c.364+11dup rs773836576
NM_001540.5(HSPB1):c.364+13G>A
NM_001540.5(HSPB1):c.364+13G>C rs1468075489
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+7C>T
NM_001540.5(HSPB1):c.364+9_364+26del
NM_001540.5(HSPB1):c.365-10C>A
NM_001540.5(HSPB1):c.365-10C>T rs760390744
NM_001540.5(HSPB1):c.365-11_365-9delinsATA rs2117160979
NM_001540.5(HSPB1):c.365-3A>G rs2117161041
NM_001540.5(HSPB1):c.365-5C>A
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-5del rs759570569
NM_001540.5(HSPB1):c.365-5dup rs759570569
NM_001540.5(HSPB1):c.365-6C>A rs200902768
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>T rs201897299
NM_001540.5(HSPB1):c.365G>A (p.Gly122Asp)
NM_001540.5(HSPB1):c.372C>T (p.His124=) rs145243219
NM_001540.5(HSPB1):c.373GAG[1] (p.Glu126del) rs1554614633
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) rs1475184454
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.385G>A (p.Asp129Asn) rs2117161160
NM_001540.5(HSPB1):c.395G>T (p.Gly132Val)
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys) rs1583966042
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln) rs863225022
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.40C>T (p.Pro14Ser)
NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala) rs1554614648
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met) rs1064795077
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln) rs1554614650
NM_001540.5(HSPB1):c.427A>T (p.Thr143Ser)
NM_001540.5(HSPB1):c.428+5G>C rs1169656002
NM_001540.5(HSPB1):c.428+9T>C rs1424157184
NM_001540.5(HSPB1):c.429-16CT[2]
NM_001540.5(HSPB1):c.429-4C>T
NM_001540.5(HSPB1):c.429-7C>G
NM_001540.5(HSPB1):c.432G>A (p.Leu144=) rs1563652837
NM_001540.5(HSPB1):c.435C>T (p.Pro145=)
NM_001540.5(HSPB1):c.437C>G (p.Pro146Arg) rs780691682
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.457G>A (p.Val153Ile)
NM_001540.5(HSPB1):c.459T>C (p.Val153=) rs1803068085
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001540.5(HSPB1):c.460T>G (p.Ser154Ala) rs1158758405
NM_001540.5(HSPB1):c.460TCC[2] (p.Ser156del) rs2117161860
NM_001540.5(HSPB1):c.472del (p.Ser158fs)
NM_001540.5(HSPB1):c.473C>G (p.Ser158Cys) rs1327017762
NM_001540.5(HSPB1):c.474C>T (p.Ser158=)
NM_001540.5(HSPB1):c.477T>G (p.Pro159=)
NM_001540.5(HSPB1):c.478G>C (p.Glu160Gln)
NM_001540.5(HSPB1):c.498G>C (p.Glu166Asp) rs148357753
NM_001540.5(HSPB1):c.502C>T (p.Pro168Ser)
NM_001540.5(HSPB1):c.503C>T (p.Pro168Leu)
NM_001540.5(HSPB1):c.504C>T (p.Pro168=) rs866382696
NM_001540.5(HSPB1):c.507G>A (p.Met169Ile)
NM_001540.5(HSPB1):c.510del (p.Lys171fs) rs1803069940
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001540.5(HSPB1):c.518C>T (p.Ala173Val)
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) rs1060503021
NM_001540.5(HSPB1):c.52C>A (p.Pro18Thr) rs1803014417
NM_001540.5(HSPB1):c.52C>T (p.Pro18Ser) rs1803014417
NM_001540.5(HSPB1):c.530A>T (p.Asn177Ile) rs931154885
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001540.5(HSPB1):c.536T>C (p.Ile179Thr)
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro) rs1803071312
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr) rs104894020
NM_001540.5(HSPB1):c.544C>G (p.Pro182Ala) rs104894020
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile) rs1803072212
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.555C>T (p.Phe185=) rs533051169
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu) rs774585320
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr) rs1803072933
NM_001540.5(HSPB1):c.571_583del (p.Leu191fs)
NM_001540.5(HSPB1):c.576_578del (p.Gly193del) rs777055559
NM_001540.5(HSPB1):c.58C>A (p.Arg20Ser)
NM_001540.5(HSPB1):c.599A>T (p.Asp200Val)
NM_001540.5(HSPB1):c.600T>G (p.Asp200Glu)
NM_001540.5(HSPB1):c.602A>G (p.Glu201Gly)
NM_001540.5(HSPB1):c.607GCC[1] (p.Ala204del) rs1276065076
NM_001540.5(HSPB1):c.609C>T (p.Ala203=)
NM_001540.5(HSPB1):c.609dup (p.Ala204fs) rs1563653037
NM_001540.5(HSPB1):c.60C>T (p.Arg20=) rs1803014628
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser) rs367857772
NM_001540.5(HSPB1):c.612C>T (p.Ala204=)
NM_001540.5(HSPB1):c.615G>A (p.Lys205=) rs1310856057
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn) rs1310856057
NM_001540.5(HSPB1):c.66G>C (p.Trp22Cys) rs2117157792
NM_001540.5(HSPB1):c.74_95dup (p.Ala32_Phe33insTer) rs2117157815
NM_001540.5(HSPB1):c.75T>C (p.His25=)
NM_001540.5(HSPB1):c.75T>G (p.His25Gln)
NM_001540.5(HSPB1):c.7G>A (p.Glu3Lys) rs748003351
NM_001540.5(HSPB1):c.80G>A (p.Arg27His)
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu) rs367662394
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala) rs771709777
NM_001540.5(HSPB1):c.94G>T (p.Ala32Ser)
NM_001540.5(HSPB1):c.95C>A (p.Ala32Asp)

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