ClinVar Miner

List of variants reported as likely benign for Sphingolipid activator protein 1 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 456
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00088
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00052
NM_002778.4(PSAP):c.577G>C (p.Asp193His) rs149305591 0.00039
NM_002778.4(PSAP):c.966G>A (p.Val322=) rs139413990 0.00037
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) rs138636858 0.00036
NM_002778.4(PSAP):c.117G>A (p.Ala39=) rs200836594 0.00029
NM_002778.4(PSAP):c.721-13T>C rs370875535 0.00025
NM_002778.4(PSAP):c.250-5C>T rs370622849 0.00022
NM_002778.4(PSAP):c.582T>C (p.Asn194=) rs150177878 0.00022
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=) rs146925179 0.00019
NM_002778.4(PSAP):c.208G>T (p.Val70Phe) rs750239809 0.00019
NM_002778.4(PSAP):c.1338T>C (p.Pro446=) rs138217875 0.00018
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 0.00018
NM_002778.4(PSAP):c.577-14T>G rs756487651 0.00012
NM_002778.4(PSAP):c.1006-12C>T rs367693244 0.00011
NM_002778.4(PSAP):c.855C>T (p.Ala285=) rs1040901231 0.00011
NM_002778.4(PSAP):c.1006-11G>A rs375537927 0.00009
NM_002778.4(PSAP):c.1092C>T (p.Tyr364=) rs200226479 0.00009
NM_002778.4(PSAP):c.175-19C>A rs150679635 0.00009
NM_002778.4(PSAP):c.588C>T (p.Asp196=) rs374869360 0.00008
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) rs200319381 0.00008
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) rs572916661 0.00007
NM_002778.4(PSAP):c.1350+9C>T rs747430592 0.00007
NM_002778.4(PSAP):c.864C>T (p.Ala288=) rs747491605 0.00007
NM_002778.4(PSAP):c.960C>T (p.Phe320=) rs369725602 0.00007
NM_002778.4(PSAP):c.1215C>T (p.Asp405=) rs567165839 0.00006
NM_002778.4(PSAP):c.1311G>A (p.Glu437=) rs149525964 0.00006
NM_002778.4(PSAP):c.1017C>T (p.Leu339=) rs146778046 0.00005
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) rs762811199 0.00005
NM_002778.4(PSAP):c.549C>T (p.Asp183=) rs142002239 0.00005
NM_002778.4(PSAP):c.852C>T (p.Pro284=) rs370435627 0.00005
NM_002778.4(PSAP):c.1005+12T>C rs778093667 0.00004
NM_002778.4(PSAP):c.1539+20G>A rs372772165 0.00004
NM_002778.4(PSAP):c.1540-8C>G rs997903652 0.00004
NM_002778.4(PSAP):c.41-17_41-9dup rs768077397 0.00004
NM_002778.4(PSAP):c.576+11G>A rs371681572 0.00004
NM_002778.4(PSAP):c.6C>T (p.Tyr2=) rs774482765 0.00004
NM_002778.4(PSAP):c.1006-20G>A rs751608981 0.00003
NM_002778.4(PSAP):c.1050G>A (p.Pro350=) rs761826289 0.00003
NM_002778.4(PSAP):c.1161C>G (p.Leu387=) rs927307280 0.00003
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00003
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555 0.00003
NM_002778.4(PSAP):c.1287G>A (p.Lys429=) rs1295313912 0.00003
NM_002778.4(PSAP):c.250-4G>A rs568499058 0.00003
NM_002778.4(PSAP):c.414C>T (p.Cys138=) rs769564352 0.00003
NM_002778.4(PSAP):c.48C>T (p.Ala16=) rs199808371 0.00003
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) rs188854022 0.00003
NM_002778.4(PSAP):c.621C>T (p.Asp207=) rs140702696 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.894G>A (p.Leu298=) rs150048951 0.00003
NM_002778.4(PSAP):c.910-13A>G rs370155869 0.00003
NM_002778.4(PSAP):c.1020C>T (p.Asp340=) rs113679008 0.00002
NM_002778.4(PSAP):c.1114C>T (p.Leu372=) rs745951723 0.00002
NM_002778.4(PSAP):c.1233G>T (p.Val411=) rs751867103 0.00002
NM_002778.4(PSAP):c.1350+17G>C rs1227201557 0.00002
NM_002778.4(PSAP):c.153C>T (p.Thr51=) rs11555016 0.00002
NM_002778.4(PSAP):c.1540-10C>T rs531023925 0.00002
NM_002778.4(PSAP):c.174+10G>A rs375887783 0.00002
NM_002778.4(PSAP):c.342C>G (p.Leu114=) rs1449386460 0.00002
NM_002778.4(PSAP):c.354G>C (p.Leu118=) rs759556759 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.405C>T (p.Leu135=) rs377181245 0.00002
NM_002778.4(PSAP):c.507C>T (p.Ala169=) rs765156362 0.00002
NM_002778.4(PSAP):c.778-8C>G rs750717205 0.00002
NM_002778.4(PSAP):c.879C>T (p.Ile293=) rs1199611460 0.00002
NM_002778.4(PSAP):c.1005+19A>G rs1444330302 0.00001
NM_002778.4(PSAP):c.1006-16C>G rs754297002 0.00001
NM_002778.4(PSAP):c.1006-7G>A rs372177796 0.00001
NM_002778.4(PSAP):c.1029C>T (p.Asp343=) rs199650747 0.00001
NM_002778.4(PSAP):c.1059G>C (p.Leu353=) rs1303119734 0.00001
NM_002778.4(PSAP):c.1062G>A (p.Ser354=) rs1486812963 0.00001
NM_002778.4(PSAP):c.1077G>A (p.Glu359=) rs2133031778 0.00001
NM_002778.4(PSAP):c.1089G>A (p.Thr363=) rs1307052772 0.00001
NM_002778.4(PSAP):c.1128C>T (p.Val376=) rs1287661070 0.00001
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) rs751199102 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1170C>T (p.Gly390=) rs757887601 0.00001
NM_002778.4(PSAP):c.1173G>A (p.Thr391=) rs368085481 0.00001
NM_002778.4(PSAP):c.1179G>A (p.Leu393=) rs761017736 0.00001
NM_002778.4(PSAP):c.1192+12G>T rs776191919 0.00001
NM_002778.4(PSAP):c.1192+17G>A rs1449279176 0.00001
NM_002778.4(PSAP):c.1192+20C>T rs768629606 0.00001
NM_002778.4(PSAP):c.1193-15T>G rs771629672 0.00001
NM_002778.4(PSAP):c.1193-17G>A rs779860250 0.00001
NM_002778.4(PSAP):c.1227C>T (p.Cys409=) rs147030327 0.00001
NM_002778.4(PSAP):c.1236C>T (p.Cys412=) rs766505800 0.00001
NM_002778.4(PSAP):c.126C>T (p.Cys42=) rs372943091 0.00001
NM_002778.4(PSAP):c.1284C>T (p.Thr428=) rs751839091 0.00001
NM_002778.4(PSAP):c.12C>T (p.Leu4=) rs1457254996 0.00001
NM_002778.4(PSAP):c.1308T>G (p.Leu436=) rs1397067517 0.00001
NM_002778.4(PSAP):c.1323C>T (p.Ser441=) rs1419823465 0.00001
NM_002778.4(PSAP):c.1350+10G>A rs542537706 0.00001
NM_002778.4(PSAP):c.1350+15G>A rs574811418 0.00001
NM_002778.4(PSAP):c.1350+20G>C rs932909129 0.00001
NM_002778.4(PSAP):c.1350+8C>T rs781743080 0.00001
NM_002778.4(PSAP):c.1351-15C>T rs1434032411 0.00001
NM_002778.4(PSAP):c.1395C>A (p.Ile465=) rs1216069938 0.00001
NM_002778.4(PSAP):c.1419C>T (p.Ser473=) rs1842236573 0.00001
NM_002778.4(PSAP):c.141C>T (p.His47=) rs759428533 0.00001
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) rs528318545 0.00001
NM_002778.4(PSAP):c.1431+11C>G rs374937004 0.00001
NM_002778.4(PSAP):c.1431+7C>G rs1396852731 0.00001
NM_002778.4(PSAP):c.1432-19T>C rs763768157 0.00001
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.147G>A (p.Leu49=) rs112119208 0.00001
NM_002778.4(PSAP):c.1540-5A>G rs777561159 0.00001
NM_002778.4(PSAP):c.1545C>T (p.Val515=) rs755848707 0.00001
NM_002778.4(PSAP):c.1548G>A (p.Glu516=) rs780990521 0.00001
NM_002778.4(PSAP):c.174+16C>T rs963186566 0.00001
NM_002778.4(PSAP):c.174+17T>C rs1589454166 0.00001
NM_002778.4(PSAP):c.175-16G>A rs772354701 0.00001
NM_002778.4(PSAP):c.175-17C>T rs1389573032 0.00001
NM_002778.4(PSAP):c.175-5C>G rs771134177 0.00001
NM_002778.4(PSAP):c.186C>T (p.Pro62=) rs749422368 0.00001
NM_002778.4(PSAP):c.19C>T (p.Leu7=) rs768373930 0.00001
NM_002778.4(PSAP):c.213C>T (p.Thr71=) rs765022811 0.00001
NM_002778.4(PSAP):c.249+10G>A rs1454831195 0.00001
NM_002778.4(PSAP):c.249+15G>A rs749419007 0.00001
NM_002778.4(PSAP):c.249+9C>T rs771189289 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.267C>T (p.Tyr89=) rs1229121337 0.00001
NM_002778.4(PSAP):c.268T>C (p.Leu90=) rs954076104 0.00001
NM_002778.4(PSAP):c.270G>A (p.Leu90=) rs937623244 0.00001
NM_002778.4(PSAP):c.291T>A (p.Leu97=) rs375977785 0.00001
NM_002778.4(PSAP):c.294G>A (p.Pro98=) rs752253216 0.00001
NM_002778.4(PSAP):c.348C>G (p.Val116=) rs1193323247 0.00001
NM_002778.4(PSAP):c.351C>A (p.Ile117=) rs1411937746 0.00001
NM_002778.4(PSAP):c.376-15T>C rs1160181309 0.00001
NM_002778.4(PSAP):c.376-6C>T rs1246858301 0.00001
NM_002778.4(PSAP):c.376-9T>C rs1008892591 0.00001
NM_002778.4(PSAP):c.41-16T>C rs766446849 0.00001
NM_002778.4(PSAP):c.41-20C>T rs1201365935 0.00001
NM_002778.4(PSAP):c.411C>T (p.Leu137=) rs2494526538 0.00001
NM_002778.4(PSAP):c.423C>T (p.Leu141=) rs780891597 0.00001
NM_002778.4(PSAP):c.438A>G (p.Ala146=) rs758862885 0.00001
NM_002778.4(PSAP):c.489C>T (p.Asp163=) rs762802593 0.00001
NM_002778.4(PSAP):c.54G>A (p.Pro18=) rs778317867 0.00001
NM_002778.4(PSAP):c.576+10C>T rs765209148 0.00001
NM_002778.4(PSAP):c.576+9A>G rs1842451379 0.00001
NM_002778.4(PSAP):c.577-11C>T rs1211889492 0.00001
NM_002778.4(PSAP):c.585G>A (p.Gly195=) rs1169242345 0.00001
NM_002778.4(PSAP):c.591T>G (p.Val197=) rs1387039570 0.00001
NM_002778.4(PSAP):c.609G>A (p.Gln203=) rs1842430531 0.00001
NM_002778.4(PSAP):c.60T>C (p.Leu20=) rs188252882 0.00001
NM_002778.4(PSAP):c.642C>T (p.Thr214=) rs1842429688 0.00001
NM_002778.4(PSAP):c.648C>T (p.Ser216=) rs545071203 0.00001
NM_002778.4(PSAP):c.663C>T (p.Ala221=) rs780126150 0.00001
NM_002778.4(PSAP):c.687G>A (p.Glu229=) rs752555251 0.00001
NM_002778.4(PSAP):c.702C>T (p.Gly234=) rs559897366 0.00001
NM_002778.4(PSAP):c.717C>T (p.Asp239=) rs879066464 0.00001
NM_002778.4(PSAP):c.721-19T>G rs751395165 0.00001
NM_002778.4(PSAP):c.721-20A>G rs1434833385 0.00001
NM_002778.4(PSAP):c.721-8C>T rs749984517 0.00001
NM_002778.4(PSAP):c.721-9T>C rs1175109637 0.00001
NM_002778.4(PSAP):c.723C>T (p.Cys241=) rs147805036 0.00001
NM_002778.4(PSAP):c.732T>C (p.Tyr244=) rs146732171 0.00001
NM_002778.4(PSAP):c.777+11C>T rs749373571 0.00001
NM_002778.4(PSAP):c.777+12G>A rs533983482 0.00001
NM_002778.4(PSAP):c.777+16G>T rs371763868 0.00001
NM_002778.4(PSAP):c.777+18C>T rs779957575 0.00001
NM_002778.4(PSAP):c.777+19C>G rs758128390 0.00001
NM_002778.4(PSAP):c.807G>C (p.Gly269=) rs1268577104 0.00001
NM_002778.4(PSAP):c.834C>T (p.Pro278=) rs2133035278 0.00001
NM_002778.4(PSAP):c.849C>A (p.Val283=) rs747705833 0.00001
NM_002778.4(PSAP):c.87G>A (p.Ser29=) rs764061004 0.00001
NM_002778.4(PSAP):c.885C>T (p.Ala295=) rs563653978 0.00001
NM_002778.4(PSAP):c.909+18G>A rs1842305723 0.00001
NM_002778.4(PSAP):c.910-7T>C rs758811581 0.00001
NM_002778.4(PSAP):c.915C>T (p.His305=) rs377732178 0.00001
NM_002778.4(PSAP):c.930G>A (p.Lys310=) rs939130175 0.00001
NM_002778.4(PSAP):c.942C>T (p.Tyr314=) rs1589447082 0.00001
NM_002778.4(PSAP):c.9C>T (p.Ala3=) rs769671646 0.00001
NM_002778.4(PSAP):c.1005+11C>T
NM_002778.4(PSAP):c.1005+13C>G rs2494500115
NM_002778.4(PSAP):c.1005+15T>C rs2494500106
NM_002778.4(PSAP):c.1006-11G>C rs375537927
NM_002778.4(PSAP):c.1006-11G>T rs375537927
NM_002778.4(PSAP):c.1006-11GT[2] rs1238736249
NM_002778.4(PSAP):c.1006-14C>T rs778873248
NM_002778.4(PSAP):c.1006-19A>T rs2133032097
NM_002778.4(PSAP):c.1006-9G>A rs1464896406
NM_002778.4(PSAP):c.1008A>G (p.Lys336=)
NM_002778.4(PSAP):c.1017C>G (p.Leu339=) rs146778046
NM_002778.4(PSAP):c.1041G>A (p.Ser347=) rs747117207
NM_002778.4(PSAP):c.1045C>T (p.Leu349=) rs780071643
NM_002778.4(PSAP):c.1050G>C (p.Pro350=) rs761826289
NM_002778.4(PSAP):c.1050G>T (p.Pro350=) rs761826289
NM_002778.4(PSAP):c.1053G>A (p.Lys351=) rs2494498331
NM_002778.4(PSAP):c.1065A>G (p.Glu355=) rs2494498249
NM_002778.4(PSAP):c.1083G>A (p.Val361=) rs2133031749
NM_002778.4(PSAP):c.1089G>C (p.Thr363=) rs1307052772
NM_002778.4(PSAP):c.1095C>T (p.Gly365=) rs2494498006
NM_002778.4(PSAP):c.1104C>T (p.Ile368=) rs2494497960
NM_002778.4(PSAP):c.1107G>C (p.Leu369=) rs2494497938
NM_002778.4(PSAP):c.1110C>T (p.Ser370=) rs2494497929
NM_002778.4(PSAP):c.1113C>T (p.Ile371=) rs1842258530
NM_002778.4(PSAP):c.1117C>T (p.Leu373=) rs1204739286
NM_002778.4(PSAP):c.1119G>A (p.Leu373=) rs1253208545
NM_002778.4(PSAP):c.1119G>T (p.Leu373=) rs1253208545
NM_002778.4(PSAP):c.1122G>A (p.Glu374=) rs775169672
NM_002778.4(PSAP):c.1149C>T (p.Ser383=) rs2494497668
NM_002778.4(PSAP):c.114G>A (p.Thr38=) rs748870680
NM_002778.4(PSAP):c.114G>C (p.Thr38=) rs748870680
NM_002778.4(PSAP):c.1155G>A (p.Leu385=) rs2133031527
NM_002778.4(PSAP):c.1155G>T (p.Leu385=) rs2133031527
NM_002778.4(PSAP):c.1158C>T (p.His386=) rs2133031525
NM_002778.4(PSAP):c.1161C>T (p.Leu387=) rs927307280
NM_002778.4(PSAP):c.1185A>C (p.Ala395=) rs2494497507
NM_002778.4(PSAP):c.1191C>G (p.Thr397=) rs759580183
NM_002778.4(PSAP):c.1192+11G>A rs2494497457
NM_002778.4(PSAP):c.1192+12G>A rs776191919
NM_002778.4(PSAP):c.1192+13T>A rs781147685
NM_002778.4(PSAP):c.1192+14G>T rs1842255507
NM_002778.4(PSAP):c.1192+18T>C
NM_002778.4(PSAP):c.1192+18T>G
NM_002778.4(PSAP):c.1192+7G>A rs1842255678
NM_002778.4(PSAP):c.1192+7G>T rs1842255678
NM_002778.4(PSAP):c.1193-11C>G rs745471135
NM_002778.4(PSAP):c.1193-12C>A rs1389422529
NM_002778.4(PSAP):c.1193-14G>A rs1454774084
NM_002778.4(PSAP):c.1193-17G>C rs779860250
NM_002778.4(PSAP):c.1193-18C>G rs200988983
NM_002778.4(PSAP):c.1193-9C>T rs1190970898
NM_002778.4(PSAP):c.1233G>A (p.Val411=) rs751867103
NM_002778.4(PSAP):c.1245G>T (p.Leu415=) rs2494496813
NM_002778.4(PSAP):c.1260T>C (p.Asp420=) rs2494496742
NM_002778.4(PSAP):c.1267C>T (p.Leu423=) rs2494496672
NM_002778.4(PSAP):c.1296C>T (p.Ile432=) rs144042454
NM_002778.4(PSAP):c.1297C>T (p.Leu433=) rs761967647
NM_002778.4(PSAP):c.12C>A (p.Leu4=) rs1457254996
NM_002778.4(PSAP):c.12C>G (p.Leu4=) rs1457254996
NM_002778.4(PSAP):c.1302T>C (p.Ala434=) rs2494496476
NM_002778.4(PSAP):c.1314A>G (p.Lys438=) rs2494496382
NM_002778.4(PSAP):c.1317C>T (p.Gly439=) rs2494496356
NM_002778.4(PSAP):c.1320C>T (p.Cys440=) rs1842249600
NM_002778.4(PSAP):c.132A>G (p.Ala44=) rs2133052871
NM_002778.4(PSAP):c.1350+12G>A rs2494496099
NM_002778.4(PSAP):c.1350+16G>C rs2133030478
NM_002778.4(PSAP):c.1350+7C>T rs1326298452
NM_002778.4(PSAP):c.1350+9C>A rs747430592
NM_002778.4(PSAP):c.1350+9del rs774201963
NM_002778.4(PSAP):c.1351-10T>A rs747414740
NM_002778.4(PSAP):c.1351-10T>G rs747414740
NM_002778.4(PSAP):c.1351-16C>T rs2494494670
NM_002778.4(PSAP):c.1351-5T>C rs780691822
NM_002778.4(PSAP):c.1351-9C>A rs921514800
NM_002778.4(PSAP):c.1351-9C>G rs921514800
NM_002778.4(PSAP):c.1351-9_1351-5del rs762799607
NM_002778.4(PSAP):c.1362T>C (p.Phe454=)
NM_002778.4(PSAP):c.1377G>A (p.Glu459=) rs1208753948
NM_002778.4(PSAP):c.1389C>A (p.Ile463=) rs762811199
NM_002778.4(PSAP):c.1398G>C (p.Leu466=) rs2494494317
NM_002778.4(PSAP):c.1425G>T (p.Val475=) rs1589445950
NM_002778.4(PSAP):c.1431+18G>T rs2494494103
NM_002778.4(PSAP):c.1431+19T>C rs2494494093
NM_002778.4(PSAP):c.1432-16T>G
NM_002778.4(PSAP):c.1432-20T>C rs1842229712
NM_002778.4(PSAP):c.1432-6A>G rs2494492894
NM_002778.4(PSAP):c.145C>T (p.Leu49=) rs1842580828
NM_002778.4(PSAP):c.1467G>A (p.Leu489=)
NM_002778.4(PSAP):c.1470G>A (p.Leu490=)
NM_002778.4(PSAP):c.1479G>A (p.Glu493=) rs1589445697
NM_002778.4(PSAP):c.1497A>G (p.Pro499=) rs1468772996
NM_002778.4(PSAP):c.1500C>T (p.Ser500=) rs2133028698
NM_002778.4(PSAP):c.1503C>T (p.Tyr501=)
NM_002778.4(PSAP):c.1509C>T (p.Cys503=) rs2494492487
NM_002778.4(PSAP):c.1518A>T (p.Thr506=) rs2133028668
NM_002778.4(PSAP):c.1524A>G (p.Thr508=) rs2494492407
NM_002778.4(PSAP):c.1530C>G (p.Ala510=) rs2494492381
NM_002778.4(PSAP):c.1539+14_1539+20del
NM_002778.4(PSAP):c.1539+17_1539+20del rs746019728
NM_002778.4(PSAP):c.1539+18C>A rs2494492271
NM_002778.4(PSAP):c.1539+20G>T rs372772165
NM_002778.4(PSAP):c.153C>G (p.Thr51=) rs11555016
NM_002778.4(PSAP):c.1540-10C>G rs531023925
NM_002778.4(PSAP):c.1540-12C>G rs1842193352
NM_002778.4(PSAP):c.1540-19G>C rs2494488612
NM_002778.4(PSAP):c.1540-19G>T rs2494488612
NM_002778.4(PSAP):c.1540-20A>G rs770849054
NM_002778.4(PSAP):c.1540-20A>T rs770849054
NM_002778.4(PSAP):c.1540-4C>T rs1842192905
NM_002778.4(PSAP):c.1540-8C>T rs997903652
NM_002778.4(PSAP):c.1540-8_1540-7del rs2494488552
NM_002778.4(PSAP):c.1560C>T (p.Arg520=) rs2133025799
NM_002778.4(PSAP):c.168A>C (p.Pro56=) rs1842580175
NM_002778.4(PSAP):c.174+12T>C
NM_002778.4(PSAP):c.174+15C>T rs2494541350
NM_002778.4(PSAP):c.174+17T>G rs1589454166
NM_002778.4(PSAP):c.174+20A>G rs772359680
NM_002778.4(PSAP):c.175-10T>C rs2494535576
NM_002778.4(PSAP):c.175-11C>A rs746103383
NM_002778.4(PSAP):c.175-16G>T rs772354701
NM_002778.4(PSAP):c.175-6T>C rs779164168
NM_002778.4(PSAP):c.175-7C>T rs2133049297
NM_002778.4(PSAP):c.175-8T>C rs2494535570
NM_002778.4(PSAP):c.192C>T (p.Asp64=) rs2133049237
NM_002778.4(PSAP):c.201A>G (p.Lys67=) rs2133049199
NM_002778.4(PSAP):c.207T>C (p.Val69=) rs1842527028
NM_002778.4(PSAP):c.210C>T (p.Val70=) rs2494535326
NM_002778.4(PSAP):c.231G>A (p.Leu77=) rs2494535237
NM_002778.4(PSAP):c.249+10G>T rs1454831195
NM_002778.4(PSAP):c.249+11G>C rs2133049059
NM_002778.4(PSAP):c.249+13G>C rs1842525306
NM_002778.4(PSAP):c.249+19G>A rs2494535122
NM_002778.4(PSAP):c.249+20G>A rs2133049043
NM_002778.4(PSAP):c.249+7G>A rs1383864740
NM_002778.4(PSAP):c.249+8G>A rs2133049074
NM_002778.4(PSAP):c.250-10C>T rs2494533595
NM_002778.4(PSAP):c.250-12_250-11del rs1264854232
NM_002778.4(PSAP):c.250-15G>A rs1842509864
NM_002778.4(PSAP):c.250-16T>C rs2494533618
NM_002778.4(PSAP):c.250-17C>G rs1842509931
NM_002778.4(PSAP):c.250-4G>T rs568499058
NM_002778.4(PSAP):c.250-7C>T rs2494533580
NM_002778.4(PSAP):c.250-9C>G rs2133048261
NM_002778.4(PSAP):c.250-9C>T rs2133048261
NM_002778.4(PSAP):c.27C>T (p.Ser9=) rs2133075290
NM_002778.4(PSAP):c.282T>C (p.Cys94=) rs2494533378
NM_002778.4(PSAP):c.291T>C (p.Leu97=) rs375977785
NM_002778.4(PSAP):c.300G>A (p.Pro100=) rs376113488
NM_002778.4(PSAP):c.300G>T (p.Pro100=) rs376113488
NM_002778.4(PSAP):c.303C>T (p.Asn101=) rs2133048147
NM_002778.4(PSAP):c.315A>G (p.Ser105=) rs2133048117
NM_002778.4(PSAP):c.330G>A (p.Val110=) rs2494533081
NM_002778.4(PSAP):c.333C>T (p.Asp111=) rs1290504062
NM_002778.4(PSAP):c.351C>T (p.Ile117=) rs1411937746
NM_002778.4(PSAP):c.352C>T (p.Leu118=) rs1842504396
NM_002778.4(PSAP):c.375+13G>A rs2133047916
NM_002778.4(PSAP):c.375+16T>C rs2494532744
NM_002778.4(PSAP):c.375+18G>A rs2494532736
NM_002778.4(PSAP):c.375+20C>G rs1219774815
NM_002778.4(PSAP):c.375+9T>C rs2494532771
NM_002778.4(PSAP):c.376-10A>G rs2494526825
NM_002778.4(PSAP):c.376-15_376-11dup
NM_002778.4(PSAP):c.376-4C>A rs750779234
NM_002778.4(PSAP):c.376-5A>T rs2133045115
NM_002778.4(PSAP):c.376-8C>T rs2133045123
NM_002778.4(PSAP):c.381T>C (p.Arg127=) rs762133120
NM_002778.4(PSAP):c.390G>A (p.Glu130=) rs2494526684
NM_002778.4(PSAP):c.393G>A (p.Val131=) rs889083956
NM_002778.4(PSAP):c.399T>C (p.Ser133=) rs2133045048
NM_002778.4(PSAP):c.40+10G>A
NM_002778.4(PSAP):c.40+16C>G rs2494583085
NM_002778.4(PSAP):c.40+19A>T rs771708911
NM_002778.4(PSAP):c.40+8C>T rs964523271
NM_002778.4(PSAP):c.40+9T>A rs2133075223
NM_002778.4(PSAP):c.402T>A (p.Ala134=) rs1842459031
NM_002778.4(PSAP):c.402T>C (p.Ala134=) rs1842459031
NM_002778.4(PSAP):c.41-17G>C rs181164406
NM_002778.4(PSAP):c.41-17G>T rs181164406
NM_002778.4(PSAP):c.41-18C>G rs970529644
NM_002778.4(PSAP):c.41-18C>T rs970529644
NM_002778.4(PSAP):c.41-18del rs2494542106
NM_002778.4(PSAP):c.41-19A>G rs2494542110
NM_002778.4(PSAP):c.41-19dup rs2494542118
NM_002778.4(PSAP):c.41-22_41-20del rs2494542127
NM_002778.4(PSAP):c.41-7A>G rs2133053123
NM_002778.4(PSAP):c.423C>A (p.Leu141=) rs780891597
NM_002778.4(PSAP):c.429G>A (p.Lys143=) rs573587297
NM_002778.4(PSAP):c.42T>C (p.Ala14=) rs2494542027
NM_002778.4(PSAP):c.435A>G (p.Leu145=) rs1842457377
NM_002778.4(PSAP):c.441G>A (p.Glu147=) rs2494526299
NM_002778.4(PSAP):c.450C>T (p.His150=) rs757752213
NM_002778.4(PSAP):c.460C>T (p.Leu154=) rs1300106682
NM_002778.4(PSAP):c.462G>A (p.Leu154=) rs2133044866
NM_002778.4(PSAP):c.474G>A (p.Lys158=)
NM_002778.4(PSAP):c.477C>T (p.Ile159=) rs1842455698
NM_002778.4(PSAP):c.48C>A (p.Ala16=) rs199808371
NM_002778.4(PSAP):c.498G>A (p.Glu166=) rs2133044816
NM_002778.4(PSAP):c.504G>A (p.Val168=) rs2494525856
NM_002778.4(PSAP):c.510C>G (p.Pro170=) rs2494525806
NM_002778.4(PSAP):c.522C>T (p.Asn174=) rs1326511224
NM_002778.4(PSAP):c.537C>G (p.Leu179=) rs2133044748
NM_002778.4(PSAP):c.54G>C (p.Pro18=) rs778317867
NM_002778.4(PSAP):c.552C>A (p.Gly184=) rs1313057234
NM_002778.4(PSAP):c.558C>A (p.Arg186=)
NM_002778.4(PSAP):c.558C>T (p.Arg186=) rs1842452697
NM_002778.4(PSAP):c.561C>T (p.Ser187=) rs2133044694
NM_002778.4(PSAP):c.567C>G (p.Pro189=) rs760310283
NM_002778.4(PSAP):c.567C>T (p.Pro189=) rs760310283
NM_002778.4(PSAP):c.570G>A (p.Gln190=) rs142272618
NM_002778.4(PSAP):c.573A>G (p.Pro191=) rs2133044655
NM_002778.4(PSAP):c.576+11G>C rs371681572
NM_002778.4(PSAP):c.576+13G>T rs2133044620
NM_002778.4(PSAP):c.576+18C>T rs2494525407
NM_002778.4(PSAP):c.576+7C>G rs755154023
NM_002778.4(PSAP):c.576+9_576+20del rs2133044608
NM_002778.4(PSAP):c.577-12C>T rs2494523493
NM_002778.4(PSAP):c.577-7T>G rs2494523476
NM_002778.4(PSAP):c.57C>A (p.Val19=) rs2133053073
NM_002778.4(PSAP):c.57C>T (p.Val19=) rs2133053073
NM_002778.4(PSAP):c.594C>T (p.Cys198=) rs1383574711
NM_002778.4(PSAP):c.597G>A (p.Gln199=) rs2494523322
NM_002778.4(PSAP):c.615G>A (p.Val205=)
NM_002778.4(PSAP):c.618T>A (p.Thr206=) rs2133043550
NM_002778.4(PSAP):c.633T>C (p.Ala211=) rs2133043525
NM_002778.4(PSAP):c.651C>G (p.Thr217=) rs371714848
NM_002778.4(PSAP):c.663C>G (p.Ala221=) rs780126150
NM_002778.4(PSAP):c.666G>A (p.Leu222=) rs2494522894
NM_002778.4(PSAP):c.697C>T (p.Leu233=) rs146934980
NM_002778.4(PSAP):c.699G>A (p.Leu233=) rs2494522672
NM_002778.4(PSAP):c.69A>G (p.Lys23=) rs1220382181
NM_002778.4(PSAP):c.714C>T (p.Ala238=) rs141199649
NM_002778.4(PSAP):c.720+15C>T rs778910432
NM_002778.4(PSAP):c.720+16T>C rs2494522405
NM_002778.4(PSAP):c.720+7C>G rs754131929
NM_002778.4(PSAP):c.720+7C>T rs754131929
NM_002778.4(PSAP):c.721-12C>G rs1376506211
NM_002778.4(PSAP):c.721-20del
NM_002778.4(PSAP):c.721-5C>T rs2494516922
NM_002778.4(PSAP):c.729C>T (p.Asn243=) rs2494516836
NM_002778.4(PSAP):c.741G>A (p.Gln247=) rs202069470
NM_002778.4(PSAP):c.75C>T (p.Cys25=) rs928117739
NM_002778.4(PSAP):c.777+10A>G rs770857044
NM_002778.4(PSAP):c.777+9C>T rs774490507
NM_002778.4(PSAP):c.778-10C>G rs1842311005
NM_002778.4(PSAP):c.778-10C>T
NM_002778.4(PSAP):c.778-16T>C
NM_002778.4(PSAP):c.778-19T>G rs2494506323
NM_002778.4(PSAP):c.778-6C>T rs2133035424
NM_002778.4(PSAP):c.778-9T>C rs1842310965
NM_002778.4(PSAP):c.786G>A (p.Lys262=) rs2133035392
NM_002778.4(PSAP):c.789G>A (p.Glu263=) rs762026767
NM_002778.4(PSAP):c.792C>T (p.Ile264=) rs2494506107
NM_002778.4(PSAP):c.816T>C (p.Asp272=)
NM_002778.4(PSAP):c.822G>A (p.Val274=) rs149202005
NM_002778.4(PSAP):c.825A>G (p.Lys275=) rs2494505913
NM_002778.4(PSAP):c.828G>A (p.Glu276=) rs2133035300
NM_002778.4(PSAP):c.844C>T (p.Leu282=) rs1589448110
NM_002778.4(PSAP):c.84C>T (p.Gly28=) rs2133053002
NM_002778.4(PSAP):c.852C>A (p.Pro284=) rs370435627
NM_002778.4(PSAP):c.867C>G (p.Ser289=) rs2133035197
NM_002778.4(PSAP):c.87G>C (p.Ser29=) rs764061004
NM_002778.4(PSAP):c.886C>T (p.Leu296=) rs2133035173
NM_002778.4(PSAP):c.888G>A (p.Leu296=) rs750789641
NM_002778.4(PSAP):c.909+12C>G rs1842305841
NM_002778.4(PSAP):c.909+13A>C rs2494505287
NM_002778.4(PSAP):c.909+17T>A rs1407131075
NM_002778.4(PSAP):c.909+17T>C rs1407131075
NM_002778.4(PSAP):c.909+7G>A rs1395757243
NM_002778.4(PSAP):c.909+8dup rs2494505328
NM_002778.4(PSAP):c.90A>C (p.Ala30=) rs2133052977
NM_002778.4(PSAP):c.910-13A>C rs370155869
NM_002778.4(PSAP):c.910-13A>T rs370155869
NM_002778.4(PSAP):c.910-16_910-14del rs757790178
NM_002778.4(PSAP):c.910-18C>T rs1482562282
NM_002778.4(PSAP):c.910-18_910-15del rs2494500847
NM_002778.4(PSAP):c.910-8T>G rs2133032996
NM_002778.4(PSAP):c.912G>A (p.Lys304=) rs1415619569
NM_002778.4(PSAP):c.939T>C (p.Val313=) rs773021112
NM_002778.4(PSAP):c.951G>A (p.Val317=) rs2133032801
NM_002778.4(PSAP):c.961C>T (p.Leu321=) rs2494500349
NM_002778.4(PSAP):c.963G>A (p.Leu321=) rs2133032778
NM_002778.4(PSAP):c.990C>T (p.Asp330=) rs746313696
NM_002778.4(PSAP):c.99C>T (p.Cys33=) rs2494541788
NM_002778.4(PSAP):c.9C>G (p.Ala3=) rs769671646

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.