ClinVar Miner

List of variants in gene CSPP1 reported as uncertain significance for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 422
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HGVS dbSNP gnomAD frequency
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile) rs199608505 0.00096
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu) rs200535417 0.00038
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) rs199996939 0.00034
NM_001382391.1(CSPP1):c.1497-3C>T rs184342035 0.00026
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg) rs370605967 0.00024
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg) rs201797415 0.00021
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys) rs199901120 0.00019
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu) rs376549634 0.00018
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser) rs377385599 0.00016
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val) rs375985758 0.00015
NM_001382391.1(CSPP1):c.-101A>G rs200250731 0.00014
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn) rs201417325 0.00014
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) rs199521775 0.00014
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg) rs373927950 0.00012
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln) rs371211802 0.00011
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu) rs372716023 0.00010
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser) rs201720914 0.00010
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys) rs770075138 0.00008
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) rs756423026 0.00008
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg) rs767318500 0.00007
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) rs752648207 0.00007
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp) rs1024300760 0.00007
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys) rs185130908 0.00007
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg) rs775754786 0.00007
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val) rs775759544 0.00007
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr) rs374330054 0.00006
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr) rs533227813 0.00006
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp) rs757384412 0.00006
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr) rs376353407 0.00006
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg) rs371072368 0.00006
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) rs374765060 0.00006
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) rs553988238 0.00006
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val) rs201536815 0.00005
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile) rs772097768 0.00005
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp) rs759299114 0.00005
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu) rs376210928 0.00005
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly) rs559765139 0.00005
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln) rs779204541 0.00005
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His) rs375978348 0.00005
NM_001382391.1(CSPP1):c.2710+6G>A rs369255080 0.00005
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser) rs1372095738 0.00004
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr) rs371566997 0.00004
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg) rs763307442 0.00004
NM_001382391.1(CSPP1):c.1827+5T>C rs897591892 0.00004
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe) rs374318063 0.00004
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp) rs778822396 0.00004
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys) rs753718429 0.00004
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly) rs374744285 0.00004
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu) rs761172555 0.00004
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn) rs113092257 0.00004
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val) rs775268714 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys) rs759265787 0.00003
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met) rs375847469 0.00003
NM_001382391.1(CSPP1):c.1975+4C>T rs779380282 0.00003
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln) rs763911288 0.00003
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln) rs780070875 0.00003
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys) rs374169543 0.00003
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) rs767140972 0.00003
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys) rs770271054 0.00003
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) rs199831541 0.00003
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser) rs769726340 0.00003
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) rs533327313 0.00002
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr) rs373749366 0.00002
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr) rs781313362 0.00002
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp) rs746165769 0.00002
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp) rs369228037 0.00002
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr) rs751572039 0.00002
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His) rs376724794 0.00002
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His) rs775629891 0.00002
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His) rs1386679081 0.00002
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser) rs765332591 0.00002
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys) rs749026327 0.00002
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys) rs114953032 0.00002
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) rs781737308 0.00002
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg) rs377496424 0.00002
NM_001382391.1(CSPP1):c.-102G>A rs1805078439 0.00001
NM_001382391.1(CSPP1):c.-116C>T rs371071297 0.00001
NM_001382391.1(CSPP1):c.-140C>G rs770993498 0.00001
NM_001382391.1(CSPP1):c.-146T>A rs749476046 0.00001
NM_001382391.1(CSPP1):c.-75C>T rs918221746 0.00001
NM_001382391.1(CSPP1):c.100-3C>T rs919525492 0.00001
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser) rs1395802185 0.00001
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr) rs1445583372 0.00001
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn) rs1037020711 0.00001
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile) rs1231591915 0.00001
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr) rs1460794902 0.00001
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr) rs974893054 0.00001
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg) rs1438276592 0.00001
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val) rs755596091 0.00001
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala) rs1818321960 0.00001
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln) rs778430027 0.00001
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) rs1818326433 0.00001
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu) rs375900507 0.00001
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp) rs768395830 0.00001
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys) rs1818416279 0.00001
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala) rs754153035 0.00001
NM_001382391.1(CSPP1):c.1827+3A>G rs1449112719 0.00001
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp) rs527674289 0.00001
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln) rs1822579573 0.00001
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys) rs760288983 0.00001
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg) rs1452211221 0.00001
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly) rs1212455505 0.00001
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg) rs1822600510 0.00001
NM_001382391.1(CSPP1):c.199+13A>G rs756283251 0.00001
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys) rs1420249213 0.00001
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr) rs968055651 0.00001
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg) rs769707621 0.00001
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser) rs751023936 0.00001
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala) rs780885390 0.00001
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile) rs577752590 0.00001
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln) rs201974031 0.00001
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser) rs1826216893 0.00001
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His) rs769971911 0.00001
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met) rs760013419 0.00001
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr) rs1421808533 0.00001
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys) rs1251717089 0.00001
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys) rs765955382 0.00001
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr) rs769473253 0.00001
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu) rs1332974255 0.00001
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr) rs894040195 0.00001
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile) rs1828816022 0.00001
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys) rs746260241 0.00001
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro) rs764280843 0.00001
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly) rs772949501 0.00001
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys) rs373151997 0.00001
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln) rs377493480 0.00001
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val) rs370720351 0.00001
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn) rs1381482450 0.00001
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly) rs1282726257 0.00001
NM_001382391.1(CSPP1):c.2829-3T>C rs1830657246 0.00001
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr) rs1162661826 0.00001
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser) rs745710780 0.00001
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn) rs766939685 0.00001
NM_001382391.1(CSPP1):c.303+3A>T rs920556156 0.00001
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala) rs778293599 0.00001
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser) rs1395114211 0.00001
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln) rs772650396 0.00001
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His) rs762548335 0.00001
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys) rs747784602 0.00001
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro) rs1339065259 0.00001
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu) rs752084244 0.00001
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp) rs748917623 0.00001
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys) rs1369528194 0.00001
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala) rs764343140 0.00001
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg) rs374738280 0.00001
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln) rs1173092063 0.00001
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu) rs754454865 0.00001
NC_000008.10:g.(?_67976634)_(68071392_?)dup
NC_000008.10:g.(?_68015252)_(68015390_?)dup
NC_000008.10:g.(?_68024187)_(68107828_?)dup
NC_000008.10:g.(?_68024197)_(68107828_?)dup
NC_000008.10:g.(?_68070662)_(68071392_?)del
NC_000008.10:g.(?_68105679)_(68105857_?)del
NC_000008.11:g.(?_67193464)_(67193602_?)del
NM_001382391.1(CSPP1):c.-104A>G
NM_001382391.1(CSPP1):c.-104A>T rs1805077545
NM_001382391.1(CSPP1):c.-108C>T rs2129538420
NM_001382391.1(CSPP1):c.-125C>A
NM_001382391.1(CSPP1):c.-128C>T rs775895663
NM_001382391.1(CSPP1):c.-138C>A rs373705126
NM_001382391.1(CSPP1):c.-138C>T
NM_001382391.1(CSPP1):c.-142C>A rs1023702149
NM_001382391.1(CSPP1):c.-143T>A rs1164437313
NM_001382391.1(CSPP1):c.-147C>G
NM_001382391.1(CSPP1):c.-149T>A rs768356971
NM_001382391.1(CSPP1):c.-149T>G
NM_001382391.1(CSPP1):c.-150A>T
NM_001382391.1(CSPP1):c.-47A>G
NM_001382391.1(CSPP1):c.-57C>G
NM_001382391.1(CSPP1):c.-66G>A rs2129538438
NM_001382391.1(CSPP1):c.-68G>A rs2129538437
NM_001382391.1(CSPP1):c.-68G>C
NM_001382391.1(CSPP1):c.-74G>A
NM_001382391.1(CSPP1):c.-80C>G rs745897839
NM_001382391.1(CSPP1):c.-90C>T
NM_001382391.1(CSPP1):c.-96C>G rs751458139
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
NM_001382391.1(CSPP1):c.1023-3T>C
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr) rs2129547771
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys) rs1815423493
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe) rs1807945498
NM_001382391.1(CSPP1):c.1093+3A>G rs1815432822
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly) rs2129549763
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=) rs768714635
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys) rs748162424
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly) rs1816951976
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro) rs760205035
NM_001382391.1(CSPP1):c.1188-3T>C
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val) rs2129550393
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser) rs370123119
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser) rs201880658
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala) rs2129550845
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val) rs2129550849
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser) rs2129550850
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro) rs747312980
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu) rs376880257
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg) rs2129550870
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu) rs767353646
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp) rs2129550877
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe) rs1818329945
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys) rs2129551362
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile) rs2129551363
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys) rs766545455
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu) rs772097768
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro) rs369723292
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg) rs369723292
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr) rs1028530380
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn) rs2129551469
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu) rs2129551479
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys) rs375847469
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg) rs2129554180
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met) rs2129554181
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del) rs1821332797
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln) rs771386855
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys) rs2129555264
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly) rs767674652
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr) rs752873157
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro) rs2129555267
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu) rs2129541315
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp) rs1807963359
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn) rs1822601037
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp) rs923561338
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser) rs1822608915
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val) rs2129555283
NM_001382391.1(CSPP1):c.1975+5G>A
NM_001382391.1(CSPP1):c.1975+6T>C
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg) rs766230896
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr) rs1226391179
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu) rs761009916
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu) rs764240953
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro) rs2129558004
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser) rs2129558011
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu) rs1825359470
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
NM_001382391.1(CSPP1):c.2129-16A>G rs1826203961
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val) rs780885390
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly) rs778822396
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu) rs201974031
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser) rs2129559050
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe) rs2129559060
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys) rs2129559063
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys) rs1826224959
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro) rs769971911
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu) rs2129559079
NM_001382391.1(CSPP1):c.2241+9C>G rs1826230466
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del) rs2129560139
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) rs1827120184
NM_001382391.1(CSPP1):c.2391+3A>T rs1338097590
NM_001382391.1(CSPP1):c.2391+4C>T
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val) rs2129560252
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del) rs773946059
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr) rs1283124706
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del) rs750079297
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu) rs752478502
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys) rs909732603
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser) rs1484918109
NM_001382391.1(CSPP1):c.2539-18A>G
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del) rs1828417560
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu) rs1828419474
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile) rs1828425319
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile) rs2129543528
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe) rs2129561809
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp) rs1828434498
NM_001382391.1(CSPP1):c.2643+4T>C
NM_001382391.1(CSPP1):c.2643+4T>G rs748730202
NM_001382391.1(CSPP1):c.2644-11T>G
NM_001382391.1(CSPP1):c.2644-14T>G rs2129562428
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg) rs779762140
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly) rs2129562479
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His) rs1828818248
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys) rs757750162
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met) rs374300498
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly) rs1586651470
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu) rs779579881
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp) rs367889164
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln) rs764280843
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys) rs776600422
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn) rs1182648944
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His) rs1402959828
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
NM_001382391.1(CSPP1):c.2828+2C>T rs1828946939
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala) rs770066826
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser) rs770066826
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu) rs781283590
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg) rs1480057271
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly) rs1830675527
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=) rs2129567311
NM_001382391.1(CSPP1):c.2968+5G>A rs1057524684
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn) rs1830678644
NM_001382391.1(CSPP1):c.303+5T>C rs1332818013
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly) rs1554569071
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val) rs150924296
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
NM_001382391.1(CSPP1):c.483+6T>C
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala) rs2129545447
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=) rs1308150996
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys) rs1477078769
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp) rs2129545466
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln) rs1807446261
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln) rs193231165
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His) rs777234205
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg) rs2129545496
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro) rs771943937
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp) rs763959523
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg) rs2129545507
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn) rs750608589
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr) rs750608589
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly) rs1353287068
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp) rs1812585066
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val) rs1812585556
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu) rs1812594373
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu) rs1812598635
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr) rs761539830
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys) rs1339310127
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr) rs1807452107
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala) rs1585833752
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys) rs2129545557
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg) rs1313170509
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
NM_001382391.1(CSPP1):c.99+5A>G
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val) rs1479905045
NM_024790.6(CSPP1):c.-14_1del (p.Met1del)

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