ClinVar Miner

List of variants in gene SPPL2A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 295
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HGVS dbSNP gnomAD frequency
NM_032802.4(SPPL2A):c.376A>G (p.Asn126Asp) rs61751063 0.02112
NM_032802.4(SPPL2A):c.1035C>G (p.Gly345=) rs76947817 0.01749
NM_032802.4(SPPL2A):c.1090-4T>G rs118053549 0.01189
NM_032802.4(SPPL2A):c.1424C>G (p.Thr475Ser) rs145209254 0.00950
NM_032802.4(SPPL2A):c.1179C>A (p.Ile393=) rs140457962 0.00600
NM_032802.4(SPPL2A):c.1015-17G>A rs114940488 0.00463
NM_032802.4(SPPL2A):c.1281T>A (p.Asp427Glu) rs116939379 0.00299
NM_032802.4(SPPL2A):c.1554C>G (p.Val518=) rs146593203 0.00142
NM_032802.4(SPPL2A):c.101G>A (p.Gly34Glu) rs145832874 0.00117
NM_032802.4(SPPL2A):c.268G>A (p.Val90Ile) rs8034443 0.00097
NM_032802.4(SPPL2A):c.842G>A (p.Arg281His) rs139684176 0.00083
NM_032802.4(SPPL2A):c.450+17A>G rs201316053 0.00074
NM_032802.4(SPPL2A):c.841C>T (p.Arg281Cys) rs373920809 0.00048
NM_032802.4(SPPL2A):c.1327+12T>C rs199712140 0.00032
NM_032802.4(SPPL2A):c.1096G>A (p.Glu366Lys) rs199669835 0.00031
NM_032802.4(SPPL2A):c.995T>C (p.Leu332Pro) rs200572932 0.00030
NM_032802.4(SPPL2A):c.1380G>A (p.Lys460=) rs137902988 0.00029
NM_032802.4(SPPL2A):c.963G>A (p.Gly321=) rs547579691 0.00022
NM_032802.4(SPPL2A):c.492G>A (p.Ser164=) rs146611364 0.00021
NM_032802.4(SPPL2A):c.1147-5A>G rs780424318 0.00012
NM_032802.4(SPPL2A):c.1116C>T (p.Leu372=) rs374979239 0.00011
NM_032802.4(SPPL2A):c.360+16A>G rs373383464 0.00011
NM_032802.4(SPPL2A):c.96G>A (p.Ala32=) rs372546749 0.00008
NM_032802.4(SPPL2A):c.1274G>T (p.Arg425Ile) rs199527244 0.00006
NM_032802.4(SPPL2A):c.208A>G (p.Thr70Ala) rs750011761 0.00006
NM_032802.4(SPPL2A):c.1459A>C (p.Lys487Gln) rs772099878 0.00005
NM_032802.4(SPPL2A):c.830+1G>A rs143931739 0.00004
NM_032802.4(SPPL2A):c.927A>G (p.Glu309=) rs1318537368 0.00004
NM_032802.4(SPPL2A):c.374G>A (p.Gly125Asp) rs376767094 0.00003
NM_032802.4(SPPL2A):c.901G>T (p.Val301Phe) rs1434773591 0.00003
NM_032802.4(SPPL2A):c.932+12C>G rs367644554 0.00003
NM_032802.4(SPPL2A):c.1024A>G (p.Ile342Val) rs760927737 0.00002
NM_032802.4(SPPL2A):c.308T>C (p.Ile103Thr) rs142491885 0.00002
NM_032802.4(SPPL2A):c.355G>C (p.Val119Leu) rs575721916 0.00002
NM_032802.4(SPPL2A):c.828C>T (p.Cys276=) rs753370599 0.00002
NM_032802.4(SPPL2A):c.830+5G>T rs775021087 0.00002
NM_032802.4(SPPL2A):c.830C>T (p.Thr277Met) rs147266738 0.00002
NM_032802.4(SPPL2A):c.1015-10T>C rs757616857 0.00001
NM_032802.4(SPPL2A):c.1147-7T>C rs1455207116 0.00001
NM_032802.4(SPPL2A):c.118G>T (p.Asp40Tyr) rs190385867 0.00001
NM_032802.4(SPPL2A):c.1347A>G (p.Ile449Met) rs926490151 0.00001
NM_032802.4(SPPL2A):c.1473A>G (p.Lys491=) rs780440421 0.00001
NM_032802.4(SPPL2A):c.1546C>G (p.Gln516Glu) rs1478676191 0.00001
NM_032802.4(SPPL2A):c.245G>A (p.Gly82Asp) rs541921592 0.00001
NM_032802.4(SPPL2A):c.263T>C (p.Val88Ala) rs932996357 0.00001
NM_032802.4(SPPL2A):c.274T>C (p.Trp92Arg) rs1252728564 0.00001
NM_032802.4(SPPL2A):c.300A>C (p.Lys100Asn) rs1191043791 0.00001
NM_032802.4(SPPL2A):c.311C>T (p.Ala104Val) rs535221557 0.00001
NM_032802.4(SPPL2A):c.428A>G (p.Lys143Arg) rs200073272 0.00001
NM_032802.4(SPPL2A):c.514A>G (p.Met172Val) rs769326745 0.00001
NM_032802.4(SPPL2A):c.517G>A (p.Val173Met) rs781566248 0.00001
NM_032802.4(SPPL2A):c.537G>A (p.Ala179=) rs758738881 0.00001
NM_032802.4(SPPL2A):c.544A>C (p.Thr182Pro) rs2062867760 0.00001
NM_032802.4(SPPL2A):c.689G>A (p.Cys230Tyr) rs772786998 0.00001
NM_032802.4(SPPL2A):c.772A>G (p.Met258Val) rs367778266 0.00001
NM_032802.4(SPPL2A):c.801A>G (p.Leu267=) rs748329428 0.00001
NC_000015.9:g.(?_50999997)_(51000091_?)dup
NC_000015.9:g.(?_50999997)_(51028419_?)dup
NC_000015.9:g.(?_50999997)_(51041963_?)dup
NC_000015.9:g.(?_51012117)_(51018594_?)del
NC_000015.9:g.(?_51012117)_(51057730_?)dup
NC_000015.9:g.(?_51014301)_(51041963_?)del
NC_000015.9:g.(?_51041813)_(51057730_?)del
NC_000015.9:g.(?_51057645)_(51057730_?)del
NM_032802.4(SPPL2A):c.1005C>T (p.Pro335=) rs1301303323
NM_032802.4(SPPL2A):c.1014+13A>G
NM_032802.4(SPPL2A):c.1014+1G>A
NM_032802.4(SPPL2A):c.1014+20T>C rs2141036149
NM_032802.4(SPPL2A):c.1014+4A>G
NM_032802.4(SPPL2A):c.1014+8A>G
NM_032802.4(SPPL2A):c.1031T>C (p.Leu344Pro)
NM_032802.4(SPPL2A):c.1035C>A (p.Gly345=) rs76947817
NM_032802.4(SPPL2A):c.1058T>C (p.Phe353Ser)
NM_032802.4(SPPL2A):c.1062del (p.Phe354fs) rs1275263889
NM_032802.4(SPPL2A):c.1068C>G (p.Phe356Leu)
NM_032802.4(SPPL2A):c.1068C>T (p.Phe356=)
NM_032802.4(SPPL2A):c.1071A>G (p.Ile357Met)
NM_032802.4(SPPL2A):c.1072A>T (p.Thr358Ser) rs2141034480
NM_032802.4(SPPL2A):c.1081A>G (p.Ile361Val)
NM_032802.4(SPPL2A):c.1089+7C>G
NM_032802.4(SPPL2A):c.1089+8_1089+10del rs2141034455
NM_032802.4(SPPL2A):c.1090-20_1090-18del
NM_032802.4(SPPL2A):c.1090-7A>G
NM_032802.4(SPPL2A):c.1100G>A (p.Ser367Asn)
NM_032802.4(SPPL2A):c.1108G>A (p.Val370Ile) rs149311149
NM_032802.4(SPPL2A):c.1117G>A (p.Ala373Thr)
NM_032802.4(SPPL2A):c.1126C>T (p.Pro376Ser)
NM_032802.4(SPPL2A):c.1131T>C (p.Phe377=)
NM_032802.4(SPPL2A):c.1146+12A>G
NM_032802.4(SPPL2A):c.1146+7A>T
NM_032802.4(SPPL2A):c.1147-14_1147-13del
NM_032802.4(SPPL2A):c.1147-37GTTTT[3]
NM_032802.4(SPPL2A):c.1147-37GTTTT[4] rs140174698
NM_032802.4(SPPL2A):c.1147-37GTTTT[5] rs140174698
NM_032802.4(SPPL2A):c.1147-37GTTTT[7] rs140174698
NM_032802.4(SPPL2A):c.1147-4A>G
NM_032802.4(SPPL2A):c.1147-9T>C rs1357756230
NM_032802.4(SPPL2A):c.1167A>G (p.Val389=)
NM_032802.4(SPPL2A):c.1181A>G (p.Tyr394Cys)
NM_032802.4(SPPL2A):c.1187C>T (p.Ser396Leu)
NM_032802.4(SPPL2A):c.1188A>G (p.Ser396=)
NM_032802.4(SPPL2A):c.1203C>T (p.Cys401=)
NM_032802.4(SPPL2A):c.1204C>T (p.Leu402Phe)
NM_032802.4(SPPL2A):c.1204del (p.Leu402fs)
NM_032802.4(SPPL2A):c.1211C>T (p.Pro404Leu)
NM_032802.4(SPPL2A):c.1212T>C (p.Pro404=)
NM_032802.4(SPPL2A):c.1219A>G (p.Ile407Val)
NM_032802.4(SPPL2A):c.1249+16A>C rs1050952087
NM_032802.4(SPPL2A):c.1249+3A>C
NM_032802.4(SPPL2A):c.124T>C (p.Cys42Arg)
NM_032802.4(SPPL2A):c.1250-13T>C
NM_032802.4(SPPL2A):c.1250-17T>G
NM_032802.4(SPPL2A):c.1250-19GTTTT[2] rs764616424
NM_032802.4(SPPL2A):c.1252C>T (p.Leu418=)
NM_032802.4(SPPL2A):c.1262C>T (p.Ala421Val)
NM_032802.4(SPPL2A):c.1263A>C (p.Ala421=)
NM_032802.4(SPPL2A):c.1268G>C (p.Cys423Ser)
NM_032802.4(SPPL2A):c.1269T>C (p.Cys423=)
NM_032802.4(SPPL2A):c.1271G>C (p.Arg424Thr)
NM_032802.4(SPPL2A):c.1276T>C (p.Phe426Leu)
NM_032802.4(SPPL2A):c.127A>G (p.Met43Val)
NM_032802.4(SPPL2A):c.1290T>C (p.Thr430=)
NM_032802.4(SPPL2A):c.1301A>G (p.Tyr434Cys)
NM_032802.4(SPPL2A):c.1307A>G (p.Tyr436Cys)
NM_032802.4(SPPL2A):c.1317G>A (p.Ser439=)
NM_032802.4(SPPL2A):c.1317G>T (p.Ser439=)
NM_032802.4(SPPL2A):c.1327+11del
NM_032802.4(SPPL2A):c.1327+18T>G
NM_032802.4(SPPL2A):c.1327+20T>A
NM_032802.4(SPPL2A):c.1328-10C>A
NM_032802.4(SPPL2A):c.1328-13A>G rs1336411593
NM_032802.4(SPPL2A):c.1328-19C>T
NM_032802.4(SPPL2A):c.1328-7_1328-5del rs769083040
NM_032802.4(SPPL2A):c.1332_1333dup (p.Ala445fs)
NM_032802.4(SPPL2A):c.133T>C (p.Tyr45His)
NM_032802.4(SPPL2A):c.134A>G (p.Tyr45Cys)
NM_032802.4(SPPL2A):c.1352C>G (p.Thr451Arg)
NM_032802.4(SPPL2A):c.1352C>T (p.Thr451Ile)
NM_032802.4(SPPL2A):c.1363C>T (p.Leu455=)
NM_032802.4(SPPL2A):c.1369C>A (p.Leu457Met)
NM_032802.4(SPPL2A):c.136A>G (p.Asn46Asp)
NM_032802.4(SPPL2A):c.1370T>C (p.Leu457Pro)
NM_032802.4(SPPL2A):c.1381G>A (p.Gly461Arg)
NM_032802.4(SPPL2A):c.1393C>G (p.Leu465Val)
NM_032802.4(SPPL2A):c.1401_1404del (p.Leu466_Tyr467insTer)
NM_032802.4(SPPL2A):c.1402T>G (p.Leu468Val)
NM_032802.4(SPPL2A):c.1409C>T (p.Pro470Leu)
NM_032802.4(SPPL2A):c.1410T>A (p.Pro470=)
NM_032802.4(SPPL2A):c.1415C>G (p.Thr472Arg)
NM_032802.4(SPPL2A):c.1421T>C (p.Ile474Thr)
NM_032802.4(SPPL2A):c.1431A>G (p.Ser477=) rs747163826
NM_032802.4(SPPL2A):c.1438G>A (p.Ala480Thr)
NM_032802.4(SPPL2A):c.1447C>T (p.Arg483Cys)
NM_032802.4(SPPL2A):c.1448G>A (p.Arg483His)
NM_032802.4(SPPL2A):c.1480A>G (p.Ser494Gly)
NM_032802.4(SPPL2A):c.1488+13A>G
NM_032802.4(SPPL2A):c.1488+19G>A rs2141024809
NM_032802.4(SPPL2A):c.1488+1G>T
NM_032802.4(SPPL2A):c.1489-19G>T
NM_032802.4(SPPL2A):c.1489-20C>T
NM_032802.4(SPPL2A):c.1489-6G>T
NM_032802.4(SPPL2A):c.1510G>A (p.Ala504Thr)
NM_032802.4(SPPL2A):c.1517A>G (p.Asn506Ser)
NM_032802.4(SPPL2A):c.154C>G (p.Leu52Val)
NM_032802.4(SPPL2A):c.1558C>T (p.Gln520Ter)
NM_032802.4(SPPL2A):c.1563A>C (p.Ter521Tyr)
NM_032802.4(SPPL2A):c.161G>T (p.Ser54Ile)
NM_032802.4(SPPL2A):c.177+14A>G
NM_032802.4(SPPL2A):c.177A>G (p.Ala59=)
NM_032802.4(SPPL2A):c.178-11C>G rs899273812
NM_032802.4(SPPL2A):c.178-18G>A
NM_032802.4(SPPL2A):c.183C>A (p.Ser61=)
NM_032802.4(SPPL2A):c.195G>A (p.Met65Ile)
NM_032802.4(SPPL2A):c.197A>C (p.Asn66Thr)
NM_032802.4(SPPL2A):c.198T>G (p.Asn66Lys)
NM_032802.4(SPPL2A):c.207C>T (p.Ser69=)
NM_032802.4(SPPL2A):c.209C>T (p.Thr70Ile)
NM_032802.4(SPPL2A):c.221A>G (p.Asn74Ser)
NM_032802.4(SPPL2A):c.222C>G (p.Asn74Lys)
NM_032802.4(SPPL2A):c.228T>C (p.Ser76=)
NM_032802.4(SPPL2A):c.233T>C (p.Ile78Thr)
NM_032802.4(SPPL2A):c.235C>G (p.Pro79Ala) rs775631091
NM_032802.4(SPPL2A):c.235C>T (p.Pro79Ser)
NM_032802.4(SPPL2A):c.236C>G (p.Pro79Arg)
NM_032802.4(SPPL2A):c.239C>A (p.Pro80His)
NM_032802.4(SPPL2A):c.241G>C (p.Val81Leu)
NM_032802.4(SPPL2A):c.252G>A (p.Lys84=)
NM_032802.4(SPPL2A):c.264T>C (p.Val88=)
NM_032802.4(SPPL2A):c.273A>C (p.Pro91=)
NM_032802.4(SPPL2A):c.273A>G (p.Pro91=)
NM_032802.4(SPPL2A):c.275G>A (p.Trp92Ter)
NM_032802.4(SPPL2A):c.277G>C (p.Gly93Arg)
NM_032802.4(SPPL2A):c.287A>T (p.His96Leu)
NM_032802.4(SPPL2A):c.288T>G (p.His96Gln)
NM_032802.4(SPPL2A):c.309T>G (p.Ile103Met)
NM_032802.4(SPPL2A):c.318A>G (p.Lys106=)
NM_032802.4(SPPL2A):c.334A>G (p.Met112Val)
NM_032802.4(SPPL2A):c.338T>C (p.Leu113Ser)
NM_032802.4(SPPL2A):c.347A>G (p.Asn116Ser)
NM_032802.4(SPPL2A):c.348_350del (p.Asn117del) rs2141052062
NM_032802.4(SPPL2A):c.354T>C (p.Ser118=) rs2141052059
NM_032802.4(SPPL2A):c.355G>A (p.Val119Ile)
NM_032802.4(SPPL2A):c.355G>T (p.Val119Phe)
NM_032802.4(SPPL2A):c.361T>C (p.Phe121Leu)
NM_032802.4(SPPL2A):c.390T>C (p.Phe130=) rs1270326415
NM_032802.4(SPPL2A):c.400A>G (p.Lys134Glu)
NM_032802.4(SPPL2A):c.403A>T (p.Ile135Leu) rs2141051520
NM_032802.4(SPPL2A):c.404T>C (p.Ile135Thr)
NM_032802.4(SPPL2A):c.416T>C (p.Phe139Ser)
NM_032802.4(SPPL2A):c.416T>G (p.Phe139Cys)
NM_032802.4(SPPL2A):c.450+16C>T
NM_032802.4(SPPL2A):c.450+5A>G
NM_032802.4(SPPL2A):c.451-18T>C
NM_032802.4(SPPL2A):c.451-21_451-18del
NM_032802.4(SPPL2A):c.465C>T (p.Asn155=)
NM_032802.4(SPPL2A):c.479T>C (p.Met160Thr)
NM_032802.4(SPPL2A):c.490T>C (p.Ser164Pro)
NM_032802.4(SPPL2A):c.491C>A (p.Ser164Ter) rs770556274
NM_032802.4(SPPL2A):c.491C>T (p.Ser164Leu) rs770556274
NM_032802.4(SPPL2A):c.492G>C (p.Ser164=)
NM_032802.4(SPPL2A):c.516G>T (p.Met172Ile)
NM_032802.4(SPPL2A):c.529G>A (p.Val177Ile)
NM_032802.4(SPPL2A):c.536C>A (p.Ala179Glu)
NM_032802.4(SPPL2A):c.536C>G (p.Ala179Gly) rs200127156
NM_032802.4(SPPL2A):c.536C>T (p.Ala179Val)
NM_032802.4(SPPL2A):c.541T>A (p.Phe181Ile) rs2141050904
NM_032802.4(SPPL2A):c.573A>G (p.Gly191=)
NM_032802.4(SPPL2A):c.574C>G (p.Leu192Val)
NM_032802.4(SPPL2A):c.583T>A (p.Leu195Met)
NM_032802.4(SPPL2A):c.584+11_584+14del rs1555444244
NM_032802.4(SPPL2A):c.584+16_584+17del
NM_032802.4(SPPL2A):c.584+20G>A
NM_032802.4(SPPL2A):c.585-14G>A
NM_032802.4(SPPL2A):c.585-17C>T
NM_032802.4(SPPL2A):c.585-4A>G
NM_032802.4(SPPL2A):c.598G>T (p.Ala200Ser)
NM_032802.4(SPPL2A):c.598_599delinsTT (p.Ala200Leu) rs2141043345
NM_032802.4(SPPL2A):c.599C>T (p.Ala200Val)
NM_032802.4(SPPL2A):c.634A>T (p.Lys212Ter)
NM_032802.4(SPPL2A):c.636G>C (p.Lys212Asn) rs758861711
NM_032802.4(SPPL2A):c.643del (p.Tyr215fs)
NM_032802.4(SPPL2A):c.665C>A (p.Thr222Lys) rs2141043272
NM_032802.4(SPPL2A):c.668T>C (p.Val223Ala)
NM_032802.4(SPPL2A):c.67-16A>G
NM_032802.4(SPPL2A):c.682G>T (p.Val228Phe)
NM_032802.4(SPPL2A):c.683T>G (p.Val228Gly)
NM_032802.4(SPPL2A):c.698T>C (p.Met233Thr)
NM_032802.4(SPPL2A):c.708_711del (p.Leu236fs)
NM_032802.4(SPPL2A):c.725A>T (p.Lys242Ile)
NM_032802.4(SPPL2A):c.72C>T (p.Ala24=)
NM_032802.4(SPPL2A):c.733+13A>G
NM_032802.4(SPPL2A):c.733+6A>C rs2062802373
NM_032802.4(SPPL2A):c.734-10T>G
NM_032802.4(SPPL2A):c.734-13T>G
NM_032802.4(SPPL2A):c.734-18G>A
NM_032802.4(SPPL2A):c.734-2A>G
NM_032802.4(SPPL2A):c.734-4dup
NM_032802.4(SPPL2A):c.734-9T>C
NM_032802.4(SPPL2A):c.758G>T (p.Cys253Phe)
NM_032802.4(SPPL2A):c.759C>T (p.Cys253=)
NM_032802.4(SPPL2A):c.760A>G (p.Ile254Val)
NM_032802.4(SPPL2A):c.77A>G (p.Gln26Arg)
NM_032802.4(SPPL2A):c.799C>G (p.Leu267Val) rs769698329
NM_032802.4(SPPL2A):c.805C>A (p.His269Asn)
NM_032802.4(SPPL2A):c.811A>T (p.Ile271Leu)
NM_032802.4(SPPL2A):c.830+11_830+12del rs1160073717
NM_032802.4(SPPL2A):c.830+12_830+13del
NM_032802.4(SPPL2A):c.830+15C>G
NM_032802.4(SPPL2A):c.830+17G>A
NM_032802.4(SPPL2A):c.830+4C>T
NM_032802.4(SPPL2A):c.830+5G>A
NM_032802.4(SPPL2A):c.830+7A>G rs2141040127
NM_032802.4(SPPL2A):c.831-16T>A
NM_032802.4(SPPL2A):c.831-3T>C
NM_032802.4(SPPL2A):c.845G>A (p.Gly282Asp)
NM_032802.4(SPPL2A):c.853A>G (p.Met285Val)
NM_032802.4(SPPL2A):c.85A>G (p.Ile29Val)
NM_032802.4(SPPL2A):c.876C>G (p.Leu292=)
NM_032802.4(SPPL2A):c.890T>A (p.Ile297Lys) rs2141039593
NM_032802.4(SPPL2A):c.893C>A (p.Ala298Glu)
NM_032802.4(SPPL2A):c.919C>T (p.Arg307Ter)
NM_032802.4(SPPL2A):c.920G>A (p.Arg307Gln)
NM_032802.4(SPPL2A):c.932+14A>G
NM_032802.4(SPPL2A):c.933-10T>C
NM_032802.4(SPPL2A):c.933-13T>C
NM_032802.4(SPPL2A):c.933-14T>C
NM_032802.4(SPPL2A):c.933-3dup rs2141036273
NM_032802.4(SPPL2A):c.933-8G>T
NM_032802.4(SPPL2A):c.937G>C (p.Ala313Pro)
NM_032802.4(SPPL2A):c.951G>A (p.Gln317=)
NM_032802.4(SPPL2A):c.961G>T (p.Gly321Trp) rs2141036229
NM_032802.4(SPPL2A):c.965T>A (p.Ile322Asn)
NM_032802.4(SPPL2A):c.96G>T (p.Ala32=)
NM_032802.4(SPPL2A):c.976C>A (p.Leu326Met)
NM_032802.4(SPPL2A):c.988A>G (p.Lys330Glu)

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