ClinVar Miner

List of variants in gene KCND3 studied for Spinocerebellar ataxia type 19/22

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378969.1(KCND3):c.1269+15C>A rs3738298 0.16477
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08351
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) rs17215423 0.01872
NM_001378969.1(KCND3):c.375G>A (p.Pro125=) rs2289723 0.01862
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=) rs17215458 0.01243
NM_001378969.1(KCND3):c.1519-4G>T rs72548732 0.01109
NM_001378969.1(KCND3):c.957C>G (p.Ser319=) rs61733426 0.00386
NM_001378969.1(KCND3):c.627G>C (p.Thr209=) rs149299911 0.00182
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00128
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) rs149008060 0.00077
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) rs145890206 0.00076
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) rs148428571 0.00038
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=) rs147262533 0.00036
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) rs142744204 0.00034
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=) rs147087785 0.00027
NM_001378969.1(KCND3):c.870G>T (p.Arg290=) rs200894990 0.00021
NM_001378969.1(KCND3):c.789C>T (p.Asp263=) rs373264592 0.00019
NM_001378969.1(KCND3):c.459G>A (p.Ser153=) rs755206508 0.00018
NM_001378969.1(KCND3):c.1106+10C>T rs377267051 0.00016
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) rs35027371 0.00016
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His) rs771703569 0.00015
NM_001378969.1(KCND3):c.696G>A (p.Ala232=) rs370453605 0.00014
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys) rs200532657 0.00012
NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val) rs199663609 0.00012
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) rs144120746 0.00011
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=) rs150934088 0.00009
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=) rs760817061 0.00009
NM_001378969.1(KCND3):c.1269+13C>T rs72548726 0.00009
NM_001378969.1(KCND3):c.1766+3G>A rs748524463 0.00009
NM_001378969.1(KCND3):c.207G>A (p.Thr69=) rs751347311 0.00009
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His) rs200212002 0.00007
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) rs774713377 0.00006
NM_001378969.1(KCND3):c.651G>A (p.Pro217=) rs186974111 0.00006
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=) rs190703406 0.00005
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His) rs186194682 0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=) rs533201615 0.00004
NM_001378969.1(KCND3):c.1269+18G>A rs372005674 0.00004
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) rs151164490 0.00004
NM_001378969.1(KCND3):c.519C>T (p.Phe173=) rs144600384 0.00004
NM_001378969.1(KCND3):c.618G>A (p.Pro206=) rs200611538 0.00004
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=) rs1247179970 0.00003
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) rs199637120 0.00003
NM_001378969.1(KCND3):c.1524C>T (p.His508=) rs765916708 0.00003
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr) rs774711788 0.00003
NM_001378969.1(KCND3):c.339C>T (p.Ala113=) rs371366472 0.00003
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr) rs143933558 0.00003
NM_001378969.1(KCND3):c.693G>C (p.Thr231=) rs749849320 0.00003
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=) rs148320813 0.00002
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=) rs17215451 0.00002
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln) rs764928165 0.00002
NM_001378969.1(KCND3):c.1519-5C>T rs376408039 0.00002
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=) rs771385731 0.00002
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=) rs181971539 0.00002
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala) rs760907112 0.00002
NM_001378969.1(KCND3):c.318G>A (p.Pro106=) rs770807162 0.00002
NM_001378969.1(KCND3):c.321C>A (p.Arg107=) rs746952612 0.00002
NM_001378969.1(KCND3):c.348C>T (p.Asp116=) rs756600533 0.00002
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr) rs149488365 0.00002
NM_001378969.1(KCND3):c.576C>T (p.Phe192=) rs759120826 0.00002
NM_001378969.1(KCND3):c.879C>T (p.Arg293=) rs147739517 0.00002
NM_001378969.1(KCND3):c.9C>T (p.Ala3=) rs777097802 0.00002
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=) rs185723423 0.00001
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His) rs760274429 0.00001
NM_001378969.1(KCND3):c.1313C>G (p.Ser438Trp) rs1172444288 0.00001
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=) rs762936059 0.00001
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=) rs765815341 0.00001
NM_001378969.1(KCND3):c.1372-6T>C rs765435324 0.00001
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val) rs1245864814 0.00001
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg) rs1571626155 0.00001
NM_001378969.1(KCND3):c.1462-13T>C rs766769240 0.00001
NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly) rs1216457569 0.00001
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=) rs762528364 0.00001
NM_001378969.1(KCND3):c.1518+18T>C rs377356478 0.00001
NM_001378969.1(KCND3):c.1525G>A (p.Glu509Lys) rs760468985 0.00001
NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile) rs969494348 0.00001
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys) rs778141653 0.00001
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His) rs761867267 0.00001
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val) rs948125814 0.00001
NM_001378969.1(KCND3):c.1859C>A (p.Pro620His) rs758318696 0.00001
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala) rs752495973 0.00001
NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser) rs1417756814 0.00001
NM_001378969.1(KCND3):c.186G>A (p.Pro62=) rs1411627342 0.00001
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg) rs372362132 0.00001
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys) rs777172603 0.00001
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser) rs766562520 0.00001
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=) rs777559132 0.00001
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn) rs766584545 0.00001
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=) rs144184587 0.00001
NM_001378969.1(KCND3):c.609G>A (p.Glu203=) rs1171946587 0.00001
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser) rs760097003 0.00001
NM_001378969.1(KCND3):c.624C>T (p.Gly208=) rs772815178 0.00001
NM_001378969.1(KCND3):c.727C>T (p.Leu243=) rs769885163 0.00001
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr) rs373756710 0.00001
NM_001378969.1(KCND3):c.786C>T (p.Ile262=) rs369172530 0.00001
NM_001378969.1(KCND3):c.837C>T (p.Asn279=) rs761397595 0.00001
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp) rs1307934269 0.00001
NM_001378969.1(KCND3):c.96C>T (p.Ala32=) rs767230824 0.00001
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val) rs760460512 0.00001
NM_001378969.1(KCND3):c.999C>T (p.Ile333=) rs1250316713 0.00001
NC_000001.10:g.(?_112524223)_(112525348_?)dup
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu) rs1571939827
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile) rs965641511
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=) rs1216276887
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val) rs797045634
NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu)
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) rs369361457
NM_001378969.1(KCND3):c.1050G>A (p.Lys350=)
NM_001378969.1(KCND3):c.1053C>T (p.Phe351=)
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) rs397515476
NM_001378969.1(KCND3):c.1062C>T (p.Ile354=)
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=) rs1467256846
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp) rs867628133
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001378969.1(KCND3):c.1098C>A (p.Thr366=)
NM_001378969.1(KCND3):c.1106+11G>A
NM_001378969.1(KCND3):c.1106+11G>T rs1437557964
NM_001378969.1(KCND3):c.1106+15G>A
NM_001378969.1(KCND3):c.1107-21_1107-20del
NM_001378969.1(KCND3):c.1107-47915C>T rs1318670
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro) rs1675021542
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser) rs1571636508
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_001378969.1(KCND3):c.1131G>A (p.Thr377=)
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro) rs1057519453
NM_001378969.1(KCND3):c.1158C>T (p.Ile386=)
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=) rs1571636426
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn) rs397515478
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=) rs533201615
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_001378969.1(KCND3):c.1194A>G (p.Pro398=)
NM_001378969.1(KCND3):c.1197C>T (p.Val399=)
NM_001378969.1(KCND3):c.1269+14G>A rs369047161
NM_001378969.1(KCND3):c.1269+6C>T rs1060502174
NM_001378969.1(KCND3):c.1270-20dup
NM_001378969.1(KCND3):c.1270-6T>C rs1195309269
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys) rs777183510
NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro)
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu) rs771703569
NM_001378969.1(KCND3):c.1305A>T (p.Thr435=)
NM_001378969.1(KCND3):c.1324C>T (p.Leu442=)
NM_001378969.1(KCND3):c.1329C>T (p.His443=)
NM_001378969.1(KCND3):c.1336C>T (p.Arg446Cys) rs756087542
NM_001378969.1(KCND3):c.1339A>G (p.Asn447Asp) rs1571626928
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)
NM_001378969.1(KCND3):c.1351A>C (p.Asn451His)
NM_001378969.1(KCND3):c.1352A>G (p.Asn451Ser)
NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala)
NM_001378969.1(KCND3):c.1371+19T>G
NM_001378969.1(KCND3):c.1371+4G>C
NM_001378969.1(KCND3):c.1371+5G>T rs1178012198
NM_001378969.1(KCND3):c.1372-14T>C
NM_001378969.1(KCND3):c.1372-17T>C
NM_001378969.1(KCND3):c.1372-4C>T
NM_001378969.1(KCND3):c.1372-6T>G
NM_001378969.1(KCND3):c.1372-6dup rs769051410
NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser)
NM_001378969.1(KCND3):c.1384G>A (p.Glu462Lys)
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys) rs1571626257
NM_001378969.1(KCND3):c.1406C>T (p.Thr469Ile)
NM_001378969.1(KCND3):c.1413C>A (p.Leu471=)
NM_001378969.1(KCND3):c.1418A>T (p.Glu473Val) rs2101469294
NM_001378969.1(KCND3):c.1434C>T (p.His478=)
NM_001378969.1(KCND3):c.1441C>A (p.His481Asn)
NM_001378969.1(KCND3):c.1461+7C>A
NM_001378969.1(KCND3):c.1461+9C>T
NM_001378969.1(KCND3):c.1462-10T>G rs2101462550
NM_001378969.1(KCND3):c.1462-16G>T
NM_001378969.1(KCND3):c.1462-4G>A
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys) rs976664434
NM_001378969.1(KCND3):c.1518+12del
NM_001378969.1(KCND3):c.1518+17A>C
NM_001378969.1(KCND3):c.1518+4T>C rs1553235925
NM_001378969.1(KCND3):c.1519-10C>T rs1664168851
NM_001378969.1(KCND3):c.1519-17_1519-15del
NM_001378969.1(KCND3):c.1519-20_1519-18del rs775978779
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala) rs1664166577
NM_001378969.1(KCND3):c.1536T>C (p.Asp512=)
NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr)
NM_001378969.1(KCND3):c.1560C>T (p.Cys520=)
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg) rs1338355211
NM_001378969.1(KCND3):c.1587A>G (p.Pro529=)
NM_001378969.1(KCND3):c.159C>T (p.Thr53=)
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr) rs1447493103
NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu) rs1553235768
NM_001378969.1(KCND3):c.1641C>T (p.Cys547=)
NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser) rs2101456436
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)
NM_001378969.1(KCND3):c.1692T>G (p.Ala564=)
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
NM_001378969.1(KCND3):c.1701G>A (p.Leu567=)
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr) rs1553235743
NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val)
NM_001378969.1(KCND3):c.1725G>A (p.Thr575=)
NM_001378969.1(KCND3):c.1740C>A (p.Gly580=)
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys) rs1420542041
NM_001378969.1(KCND3):c.1743T>C (p.Ser581=)
NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly) rs2101456005
NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe)
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val) rs778053688
NM_001378969.1(KCND3):c.1767-17A>C
NM_001378969.1(KCND3):c.1767-4C>G
NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys) rs903701604
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp) rs1483036958
NM_001378969.1(KCND3):c.1803G>A (p.Leu601=)
NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr)
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu)
NM_001378969.1(KCND3):c.1866G>A (p.Ala622=)
NM_001378969.1(KCND3):c.186G>C (p.Pro62=)
NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser) rs2101452061
NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys) rs1435444967
NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu) rs1261735013
NM_001378969.1(KCND3):c.18G>A (p.Ala6=)
NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe) rs754759010
NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr) rs1557929628
NM_001378969.1(KCND3):c.1950C>A (p.Val650=)
NM_001378969.1(KCND3):c.218T>A (p.Phe73Tyr)
NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly) rs754042199
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln) rs1571941606
NM_001378969.1(KCND3):c.36C>T (p.Ala12=) rs2102000445
NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala) rs1675001550
NM_001378969.1(KCND3):c.436C>T (p.Arg146Trp) rs575658111
NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly) rs1217571134
NM_001378969.1(KCND3):c.447C>T (p.Asp149=) rs1553187519
NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn) rs1488410733
NM_001378969.1(KCND3):c.478A>G (p.Met160Val) rs901416743
NM_001378969.1(KCND3):c.486G>A (p.Ser162=)
NM_001378969.1(KCND3):c.492C>T (p.Ser164=) rs1170371506
NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu)
NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln)
NM_001378969.1(KCND3):c.522G>A (p.Glu174=) rs2101997545
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala) rs2101997398
NM_001378969.1(KCND3):c.561C>T (p.Tyr187=)
NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser)
NM_001378969.1(KCND3):c.600C>T (p.Asn200=) rs1674984825
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) rs2101997230
NM_001378969.1(KCND3):c.633G>A (p.Pro211=) rs35131566
NM_001378969.1(KCND3):c.633G>T (p.Pro211=) rs35131566
NM_001378969.1(KCND3):c.660G>A (p.Glu220=) rs2101996879
NM_001378969.1(KCND3):c.663C>T (p.Arg221=)
NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu)
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) rs397515475
NM_001378969.1(KCND3):c.685C>G (p.Leu229Val)
NM_001378969.1(KCND3):c.693G>A (p.Thr231=)
NM_001378969.1(KCND3):c.714C>A (p.Thr238=)
NM_001378969.1(KCND3):c.715G>C (p.Val239Leu) rs2101996463
NM_001378969.1(KCND3):c.739G>T (p.Ala247Ser)
NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg) rs2101995994
NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr) rs1675024873
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
NM_001378969.1(KCND3):c.84C>T (p.Pro28=)
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln) rs1674966041
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)
NM_001378969.1(KCND3):c.878G>A (p.Arg293His) rs1674965278
NM_001378969.1(KCND3):c.87G>A (p.Leu29=)
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) rs2101995572
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) rs2101995530
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp) rs2101995501
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser) rs1403997481
NM_001378969.1(KCND3):c.930G>A (p.Leu310=) rs577883061
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr) rs1571939905
NM_001378969.1(KCND3):c.957C>T (p.Ser319=) rs61733426
NM_001378969.1(KCND3):c.969T>C (p.Phe323=) rs757012715
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) rs2101995228

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.