ClinVar Miner

List of variants in gene SPART studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_015087.5(SPART):c.-3+215T>C rs1341484 0.99999
NM_015087.5(SPART):c.*624A>G rs2148049 0.98868
NM_015087.5(SPART):c.1288+212C>T rs912926 0.98566
NM_001142294.2(SPART):c.-51G>A rs4287440 0.69537
NC_000013.11:g.36371620A>C rs1417841 0.57058
NM_015087.5(SPART):c.*524A>G rs1054141 0.24371
NM_015087.5(SPART):c.-145G>A rs9566108 0.24276
NM_015087.4(SPART):c.-253G>A rs2281864 0.24249
NM_001142295.1(SPART):c.-202G>C rs9531842 0.24202
NM_015087.5(SPART):c.*817A>T rs7317988 0.23950
NM_015087.5(SPART):c.1733+112G>C rs35914861 0.23921
NM_015087.5(SPART):c.1629A>G (p.Ala543=) rs2274293 0.23882
NM_015087.5(SPART):c.*2123T>C rs78129833 0.23770
NM_015087.5(SPART):c.*1799G>A rs9547190 0.23738
NM_015087.5(SPART):c.*608C>T rs1054144 0.23719
NM_015087.5(SPART):c.-2-282A>G rs9547326 0.23388
NM_015087.5(SPART):c.*924C>A rs7333861 0.23384
NM_015087.5(SPART):c.-2-774T>C rs9575933 0.22658
NM_015087.5(SPART):c.*846G>A rs1054152 0.16315
NM_015087.5(SPART):c.1733+67A>G rs114639111 0.02544
NM_015087.5(SPART):c.*909A>G rs77214733 0.01632
NM_015087.5(SPART):c.1289-73A>T rs118086924 0.00895
NM_015087.5(SPART):c.1289-163G>T rs116062374 0.00504
NM_015087.5(SPART):c.1483+75T>C rs150058229 0.00377
NM_015087.5(SPART):c.1733+164C>T rs536285127 0.00356
NM_015087.5(SPART):c.-3+170C>A rs533331588 0.00329
NM_015087.5(SPART):c.1165-311T>C rs114549724 0.00307
NM_015087.5(SPART):c.1130A>T (p.Lys377Met) rs148672324 0.00191
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00180
NM_015087.5(SPART):c.1795G>T (p.Val599Leu) rs150163770 0.00175
NM_015087.5(SPART):c.1155T>G (p.Arg385=) rs140222511 0.00165
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652 0.00123
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669 0.00113
NM_015087.5(SPART):c.1939G>A (p.Val647Met) rs146683642 0.00086
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698 0.00072
NM_015087.5(SPART):c.1376G>A (p.Arg459Gln) rs7321457 0.00033
NM_015087.5(SPART):c.841G>A (p.Asp281Asn) rs773929663 0.00024
NM_015087.5(SPART):c.486A>G (p.Pro162=) rs368226366 0.00021
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser) rs142482393 0.00019
NM_015087.5(SPART):c.360A>G (p.Lys120=) rs149730980 0.00014
NM_015087.5(SPART):c.591T>C (p.Val197=) rs779363390 0.00014
NM_015087.5(SPART):c.1689C>T (p.Ile563=) rs201030352 0.00011
NM_015087.5(SPART):c.1769C>T (p.Ala590Val) rs192704075 0.00011
NM_015087.5(SPART):c.1513G>A (p.Val505Ile) rs778801809 0.00010
NM_015087.5(SPART):c.454G>A (p.Ala152Thr) rs371769949 0.00010
NM_015087.5(SPART):c.852G>A (p.Pro284=) rs571222120 0.00010
NM_015087.5(SPART):c.156C>T (p.His52=) rs146192210 0.00009
NM_015087.5(SPART):c.1782G>A (p.Ala594=) rs201110879 0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_015087.5(SPART):c.627G>A (p.Pro209=) rs370385005 0.00009
NM_015087.5(SPART):c.1138C>T (p.Arg380Cys) rs746802252 0.00008
NM_015087.5(SPART):c.1439C>T (p.Ala480Val) rs750885553 0.00007
NM_015087.5(SPART):c.411G>A (p.Gln137=) rs201850329 0.00007
NM_015087.5(SPART):c.1803C>T (p.Ala601=) rs560149430 0.00006
NM_015087.5(SPART):c.692T>A (p.Phe231Tyr) rs377161254 0.00006
NM_015087.5(SPART):c.862T>C (p.Cys288Arg) rs771147428 0.00006
NM_015087.5(SPART):c.123A>C (p.Glu41Asp) rs749355386 0.00005
NM_015087.5(SPART):c.1475A>G (p.Gln492Arg) rs371082435 0.00005
NM_015087.5(SPART):c.1530T>G (p.Ala510=) rs371585318 0.00005
NM_015087.5(SPART):c.1989G>A (p.Lys663=) rs201644972 0.00005
NM_015087.5(SPART):c.466C>T (p.Pro156Ser) rs202174672 0.00005
NM_015087.5(SPART):c.1213T>C (p.Cys405Arg) rs748804234 0.00004
NM_015087.5(SPART):c.1512C>T (p.Cys504=) rs376411341 0.00004
NM_015087.5(SPART):c.435C>T (p.Thr145=) rs779776499 0.00004
NM_015087.5(SPART):c.560A>G (p.Tyr187Cys) rs375284717 0.00004
NM_015087.5(SPART):c.798C>T (p.Pro266=) rs769573100 0.00004
NM_015087.5(SPART):c.1127A>G (p.Asn376Ser) rs368305530 0.00003
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter) rs200373703 0.00003
NM_015087.5(SPART):c.1655T>G (p.Val552Gly) rs202118286 0.00003
NM_015087.5(SPART):c.1964C>T (p.Thr655Met) rs140800614 0.00003
NM_015087.5(SPART):c.752T>G (p.Val251Gly) rs766063946 0.00003
NM_015087.5(SPART):c.927C>T (p.Val309=) rs146163994 0.00003
NM_015087.5(SPART):c.1028A>C (p.Glu343Ala) rs746750857 0.00002
NM_015087.5(SPART):c.1139G>A (p.Arg380His) rs956021462 0.00002
NM_015087.5(SPART):c.1154G>A (p.Arg385His) rs777655586 0.00002
NM_015087.5(SPART):c.1288+16T>C rs558727957 0.00002
NM_015087.5(SPART):c.1386A>G (p.Pro462=) rs766429757 0.00002
NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) rs143274967 0.00002
NM_015087.5(SPART):c.1998A>G (p.Lys666=) rs748806253 0.00002
NM_015087.5(SPART):c.292G>A (p.Gly98Ser) rs139744724 0.00002
NM_015087.5(SPART):c.6G>A (p.Glu2=) rs150945162 0.00002
NM_015087.5(SPART):c.1121A>G (p.Gln374Arg) rs1261134164 0.00001
NM_015087.5(SPART):c.1319A>G (p.Lys440Arg) rs553578965 0.00001
NM_015087.5(SPART):c.1354G>C (p.Gly452Arg) rs770460735 0.00001
NM_015087.5(SPART):c.1398C>T (p.Pro466=) rs374537898 0.00001
NM_015087.5(SPART):c.1416T>C (p.Ala472=) rs373274392 0.00001
NM_015087.5(SPART):c.141G>T (p.Lys47Asn) rs1566133181 0.00001
NM_015087.5(SPART):c.1451C>T (p.Thr484Ile) rs769132101 0.00001
NM_015087.5(SPART):c.1603C>T (p.Leu535=) rs1208538781 0.00001
NM_015087.5(SPART):c.1697A>G (p.Asn566Ser) rs370102453 0.00001
NM_015087.5(SPART):c.1770G>A (p.Ala590=) rs373841987 0.00001
NM_015087.5(SPART):c.1794dup (p.Val599fs) rs779688963 0.00001
NM_015087.5(SPART):c.180A>G (p.Ser60=) rs758310379 0.00001
NM_015087.5(SPART):c.1909G>A (p.Glu637Lys) rs1050317633 0.00001
NM_015087.5(SPART):c.1938C>T (p.Asn646=) rs751877879 0.00001
NM_015087.5(SPART):c.205C>T (p.Pro69Ser) rs17854413 0.00001
NM_015087.5(SPART):c.206C>G (p.Pro69Arg) rs1204290105 0.00001
NM_015087.5(SPART):c.253C>T (p.Leu85=) rs1168920427 0.00001
NM_015087.5(SPART):c.284T>C (p.Leu95Pro) rs1182609911 0.00001
NM_015087.5(SPART):c.348A>T (p.Glu116Asp) rs755668663 0.00001
NM_015087.5(SPART):c.388C>T (p.Gln130Ter) rs1233117382 0.00001
NM_015087.5(SPART):c.438A>G (p.Ser146=) rs905903183 0.00001
NM_015087.5(SPART):c.45C>A (p.Ile15=) rs377498366 0.00001
NM_015087.5(SPART):c.648G>A (p.Leu216=) rs764096318 0.00001
NM_015087.5(SPART):c.672A>G (p.Ile224Met) rs765080389 0.00001
NM_015087.5(SPART):c.68C>A (p.Ala23Asp) rs753340463 0.00001
NM_015087.5(SPART):c.728C>T (p.Ser243Leu) rs757350644 0.00001
NM_015087.5(SPART):c.762G>A (p.Leu254=) rs760191322 0.00001
NM_015087.5(SPART):c.774C>T (p.Leu258=) rs1203042610 0.00001
NM_015087.5(SPART):c.838C>G (p.Pro280Ala) rs761438354 0.00001
NM_015087.5(SPART):c.851C>T (p.Pro284Leu) rs373829159 0.00001
NM_015087.5(SPART):c.860A>G (p.Lys287Arg) rs1883461649 0.00001
NM_015087.5(SPART):c.928G>A (p.Val310Ile) rs759847798 0.00001
NC_000013.10:g.(?_36878502)_(36909967_?)del
NC_000013.10:g.(?_36888344)_(36888578_?)del
NM_015087.5(SPART):c.*980_*982dup
NM_015087.5(SPART):c.-3+39G>T rs138503205
NM_015087.5(SPART):c.1008+14T>A
NM_015087.5(SPART):c.1008+3A>G
NM_015087.5(SPART):c.1053T>C (p.Pro351=) rs878854993
NM_015087.5(SPART):c.1055G>C (p.Gly352Ala)
NM_015087.5(SPART):c.1110del (p.Lys370fs) rs1060499524
NM_015087.5(SPART):c.1122A>G (p.Gln374=) rs2137495326
NM_015087.5(SPART):c.1130A>G (p.Lys377Arg) rs148672324
NM_015087.5(SPART):c.1147G>A (p.Gly383Arg)
NM_015087.5(SPART):c.1156G>C (p.Gly386Arg)
NM_015087.5(SPART):c.1164+12_1164+20del
NM_015087.5(SPART):c.1164+18A>G
NM_015087.5(SPART):c.1172A>T (p.Asp391Val) rs148833652
NM_015087.5(SPART):c.118G>A (p.Glu40Lys)
NM_015087.5(SPART):c.1204A>G (p.Ile402Val)
NM_015087.5(SPART):c.1213T>G (p.Cys405Gly)
NM_015087.5(SPART):c.1221A>G (p.Pro407=)
NM_015087.5(SPART):c.1225C>G (p.Pro409Ala)
NM_015087.5(SPART):c.1232A>T (p.Glu411Val)
NM_015087.5(SPART):c.123A>G (p.Glu41=)
NM_015087.5(SPART):c.1241A>G (p.Lys414Arg)
NM_015087.5(SPART):c.1254A>G (p.Glu418=)
NM_015087.5(SPART):c.1257G>A (p.Trp419Ter)
NM_015087.5(SPART):c.1267G>C (p.Val423Leu)
NM_015087.5(SPART):c.1278C>T (p.Asn426=)
NM_015087.5(SPART):c.1289-12T>C
NM_015087.5(SPART):c.1294del (p.Ser432fs) rs2137335988
NM_015087.5(SPART):c.1309G>T (p.Gly437Cys) rs139819321
NM_015087.5(SPART):c.1321G>T (p.Gly441Cys) rs1593227853
NM_015087.5(SPART):c.1334_1335insCAAAGG (p.Thr445_Gly446insLysGly)
NM_015087.5(SPART):c.1347C>A (p.Ile449=)
NM_015087.5(SPART):c.1353A>G (p.Lys451=)
NM_015087.5(SPART):c.1381C>A (p.Gln461Lys) rs2137334547
NM_015087.5(SPART):c.1401G>A (p.Val467=)
NM_015087.5(SPART):c.1411C>T (p.Pro471Ser)
NM_015087.5(SPART):c.1413A>G (p.Pro471=)
NM_015087.5(SPART):c.1414G>C (p.Ala472Pro)
NM_015087.5(SPART):c.1419C>T (p.Val473=)
NM_015087.5(SPART):c.1440G>A (p.Ala480=)
NM_015087.5(SPART):c.1440G>T (p.Ala480=)
NM_015087.5(SPART):c.1474_1477del (p.Gln492fs) rs777288668
NM_015087.5(SPART):c.1483+12C>A
NM_015087.5(SPART):c.1483+19A>C
NM_015087.5(SPART):c.1483+19A>T
NM_015087.5(SPART):c.1484-14dup
NM_015087.5(SPART):c.1484-16T>C
NM_015087.5(SPART):c.1484-9T>A
NM_015087.5(SPART):c.149T>C (p.Ile50Thr)
NM_015087.5(SPART):c.1526T>C (p.Leu509Pro)
NM_015087.5(SPART):c.1545G>C (p.Lys515Asn)
NM_015087.5(SPART):c.160C>T (p.Leu54Phe) rs1555263370
NM_015087.5(SPART):c.1610G>A (p.Gly537Asp)
NM_015087.5(SPART):c.1615A>G (p.Met539Val)
NM_015087.5(SPART):c.1630A>G (p.Ser544Gly)
NM_015087.5(SPART):c.1642+10G>C
NM_015087.5(SPART):c.1642+13C>G
NM_015087.5(SPART):c.1642+17A>C rs2137315135
NM_015087.5(SPART):c.1643-19T>G
NM_015087.5(SPART):c.1643G>A (p.Gly548Glu)
NM_015087.5(SPART):c.1649C>T (p.Ser550Leu)
NM_015087.5(SPART):c.1652C>T (p.Thr551Ile)
NM_015087.5(SPART):c.1686C>T (p.Cys562=)
NM_015087.5(SPART):c.1695_1697del (p.Asn566del)
NM_015087.5(SPART):c.1725C>T (p.Val575=) rs1593223952
NM_015087.5(SPART):c.1727G>A (p.Arg576Lys)
NM_015087.5(SPART):c.1733+15A>T
NM_015087.5(SPART):c.1733+17T>C rs2137312976
NM_015087.5(SPART):c.1733+2dup rs2137313183
NM_015087.5(SPART):c.1734-158C>T rs145153876
NM_015087.5(SPART):c.1737C>T (p.Tyr579=)
NM_015087.5(SPART):c.1740A>C (p.Gly580=)
NM_015087.5(SPART):c.1771G>A (p.Val591Met)
NM_015087.5(SPART):c.1771G>T (p.Val591Leu) rs2137253718
NM_015087.5(SPART):c.1787A>G (p.Asn596Ser)
NM_015087.5(SPART):c.1787A>T (p.Asn596Ile)
NM_015087.5(SPART):c.1788T>C (p.Asn596=)
NM_015087.5(SPART):c.1797A>T (p.Val599=) rs1594110576
NM_015087.5(SPART):c.1816A>G (p.Asn606Asp) rs767789692
NM_015087.5(SPART):c.1823G>A (p.Gly608Asp)
NM_015087.5(SPART):c.1826T>C (p.Ile609Thr) rs1057520118
NM_015087.5(SPART):c.1836G>A (p.Met612Ile)
NM_015087.5(SPART):c.1837G>A (p.Val613Met) rs574448043
NM_015087.5(SPART):c.1848_1850del (p.Ala617del)
NM_015087.5(SPART):c.1863A>G (p.Gly621=)
NM_015087.5(SPART):c.1867A>T (p.Thr623Ser)
NM_015087.5(SPART):c.1923A>G (p.Gly641=)
NM_015087.5(SPART):c.1930A>G (p.Asn644Asp) rs2137251573
NM_015087.5(SPART):c.1944_1945del (p.Lys651fs)
NM_015087.5(SPART):c.1969_1972del (p.Lys656_Glu657insTer) rs757837545
NM_015087.5(SPART):c.1973del (p.Val658fs)
NM_015087.5(SPART):c.1982C>T (p.Ala661Val)
NM_015087.5(SPART):c.1984A>G (p.Lys662Glu)
NM_015087.5(SPART):c.1991A>G (p.Lys664Arg) rs2137250543
NM_015087.5(SPART):c.1999T>A (p.Ter667Arg) rs141364613
NM_015087.5(SPART):c.2001A>T (p.Ter667Cys)
NM_015087.5(SPART):c.200C>G (p.Thr67Arg)
NM_015087.5(SPART):c.210G>A (p.Gly70=)
NM_015087.5(SPART):c.249A>G (p.Glu83=) rs2137553861
NM_015087.5(SPART):c.253_254del (p.Leu85fs)
NM_015087.5(SPART):c.265C>T (p.Arg89Cys) rs369491741
NM_015087.5(SPART):c.272G>A (p.Arg91Lys)
NM_015087.5(SPART):c.285A>G (p.Leu95=) rs2137553323
NM_015087.5(SPART):c.288G>T (p.Glu96Asp) rs1883916556
NM_015087.5(SPART):c.293G>T (p.Gly98Val)
NM_015087.5(SPART):c.30T>A (p.Pro10=)
NM_015087.5(SPART):c.390G>A (p.Gln130=)
NM_015087.5(SPART):c.43A>G (p.Ile15Val)
NM_015087.5(SPART):c.469G>A (p.Ala157Thr)
NM_015087.5(SPART):c.470C>T (p.Ala157Val) rs1361856280
NM_015087.5(SPART):c.475C>T (p.Leu159=)
NM_015087.5(SPART):c.475_476del (p.Leu159fs) rs1480709252
NM_015087.5(SPART):c.47T>A (p.Ile16Asn)
NM_015087.5(SPART):c.482T>C (p.Leu161Ser)
NM_015087.5(SPART):c.492A>G (p.Gln164=)
NM_015087.5(SPART):c.511C>A (p.Pro171Thr)
NM_015087.5(SPART):c.537T>C (p.Ala179=)
NM_015087.5(SPART):c.544C>G (p.His182Asp)
NM_015087.5(SPART):c.553_554del (p.Val185fs)
NM_015087.5(SPART):c.623C>T (p.Pro208Leu)
NM_015087.5(SPART):c.637A>T (p.Thr213Ser) rs2137548223
NM_015087.5(SPART):c.638C>G (p.Thr213Ser)
NM_015087.5(SPART):c.685C>T (p.Gln229Ter) rs748835312
NM_015087.5(SPART):c.696del (p.Phe232fs) rs770560051
NM_015087.5(SPART):c.696dup (p.Val233fs)
NM_015087.5(SPART):c.706G>T (p.Ala236Ser)
NM_015087.5(SPART):c.709G>T (p.Gly237Trp) rs147028573
NM_015087.5(SPART):c.712G>T (p.Glu238Ter) rs1555263116
NM_015087.5(SPART):c.714G>C (p.Glu238Asp)
NM_015087.5(SPART):c.719G>T (p.Ser240Ile) rs1566131408
NM_015087.5(SPART):c.720T>A (p.Ser240Arg) rs780452995
NM_015087.5(SPART):c.720T>G (p.Ser240Arg)
NM_015087.5(SPART):c.729G>A (p.Ser243=)
NM_015087.5(SPART):c.753G>T (p.Val251=)
NM_015087.5(SPART):c.756G>A (p.Arg252=)
NM_015087.5(SPART):c.776A>G (p.Asp259Gly) rs1293303559
NM_015087.5(SPART):c.776del (p.Asp259fs)
NM_015087.5(SPART):c.780G>A (p.Thr260=)
NM_015087.5(SPART):c.810+13A>G
NM_015087.5(SPART):c.811-8C>G
NM_015087.5(SPART):c.82A>G (p.Asn28Asp)
NM_015087.5(SPART):c.837T>G (p.Val279=)
NM_015087.5(SPART):c.844_847del (p.Arg282fs)
NM_015087.5(SPART):c.848C>T (p.Ser283Phe)
NM_015087.5(SPART):c.870G>A (p.Ala290=)
NM_015087.5(SPART):c.882G>A (p.Met294Ile)
NM_015087.5(SPART):c.885dup (p.Pro296fs)
NM_015087.5(SPART):c.8A>G (p.Gln3Arg)
NM_015087.5(SPART):c.90T>C (p.Gly30=) rs1883947687
NM_015087.5(SPART):c.924G>T (p.Gly308=)
NM_015087.5(SPART):c.975T>C (p.Asp325=)
Single allele rs730882198

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