ClinVar Miner

List of variants reported as uncertain significance for Schimke immuno-osseous dysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 302
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_014140.4(SMARCAL1):c.-141G>A rs542884297 0.00148
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00122
NM_014140.4(SMARCAL1):c.2528+15G>A rs200879397 0.00078
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_014140.4(SMARCAL1):c.-114G>A rs561221026 0.00058
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354 0.00042
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00037
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00029
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842 0.00029
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336 0.00029
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846 0.00026
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228 0.00022
NM_014140.4(SMARCAL1):c.-164G>A rs767342189 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro) rs62178625 0.00017
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324 0.00014
NM_014140.4(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534 0.00011
NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109 0.00010
NM_014140.4(SMARCAL1):c.812-15T>C rs375588610 0.00009
NM_014140.4(SMARCAL1):c.1468C>T (p.Arg490Cys) rs371394232 0.00008
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350 0.00008
NM_014140.4(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120 0.00007
NM_014140.4(SMARCAL1):c.1317T>G (p.Phe439Leu) rs771757954 0.00006
NM_014140.4(SMARCAL1):c.1342A>G (p.Ile448Val) rs370689030 0.00006
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) rs529024384 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His) rs141881295 0.00005
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val) rs578123335 0.00005
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=) rs149510554 0.00005
NM_014140.4(SMARCAL1):c.*13G>T rs760333596 0.00004
NM_014140.4(SMARCAL1):c.1069T>A (p.Phe357Ile) rs369180164 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472 0.00004
NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met) rs199876834 0.00004
NM_014140.4(SMARCAL1):c.2009A>G (p.Asn670Ser) rs752621052 0.00004
NM_014140.4(SMARCAL1):c.2512G>A (p.Ala838Thr) rs369844668 0.00004
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser) rs376295895 0.00004
NM_014140.4(SMARCAL1):c.599C>T (p.Ser200Leu) rs777896137 0.00004
NM_014140.4(SMARCAL1):c.614C>T (p.Ser205Phe) rs768737511 0.00004
NM_014140.3(SMARCAL1):c.-316T>C rs1158002165 0.00003
NM_014140.4(SMARCAL1):c.-48C>A rs576450027 0.00003
NM_014140.4(SMARCAL1):c.1297G>A (p.Val433Met) rs374696042 0.00003
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192 0.00003
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00003
NM_014140.4(SMARCAL1):c.1496G>A (p.Arg499Gln) rs145264115 0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148 0.00003
NM_014140.4(SMARCAL1):c.1996C>T (p.Pro666Ser) rs376035215 0.00003
NM_014140.4(SMARCAL1):c.733G>A (p.Gly245Ser) rs137914185 0.00003
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr) rs767482393 0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=) rs140707035 0.00003
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly) rs745997031 0.00002
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys) rs763864983 0.00002
NM_014140.4(SMARCAL1):c.1757G>A (p.Arg586Gln) rs766857853 0.00002
NM_014140.4(SMARCAL1):c.193G>A (p.Val65Met) rs759402336 0.00002
NM_014140.4(SMARCAL1):c.1993G>T (p.Ala665Ser) rs768868466 0.00002
NM_014140.4(SMARCAL1):c.2002C>T (p.Arg668Trp) rs189863563 0.00002
NM_014140.4(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077 0.00002
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn) rs528033845 0.00002
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln) rs372298863 0.00002
NM_014140.4(SMARCAL1):c.2644_2646del (p.Ile882del) rs1315596315 0.00002
NM_014140.4(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564 0.00002
NM_014140.4(SMARCAL1):c.488C>A (p.Thr163Asn) rs748188404 0.00002
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=) rs530505647 0.00002
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile) rs375140716 0.00002
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val) rs751712707 0.00002
NM_014140.4(SMARCAL1):c.776T>C (p.Ile259Thr) rs750671325 0.00002
NM_014140.4(SMARCAL1):c.827C>T (p.Thr276Met) rs558788774 0.00002
NM_014140.4(SMARCAL1):c.982C>T (p.Leu328Phe) rs909294272 0.00002
NM_014140.3(SMARCAL1):c.-300G>C rs549159106 0.00001
NM_014140.4(SMARCAL1):c.-170C>T rs886055614 0.00001
NM_014140.4(SMARCAL1):c.1028T>C (p.Phe343Ser) rs1403239152 0.00001
NM_014140.4(SMARCAL1):c.1064C>T (p.Ala355Val) rs772913825 0.00001
NM_014140.4(SMARCAL1):c.1327G>C (p.Gly443Arg) rs772817540 0.00001
NM_014140.4(SMARCAL1):c.1334+4G>A rs376469384 0.00001
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268 0.00001
NM_014140.4(SMARCAL1):c.1369G>A (p.Ala457Thr) rs778972713 0.00001
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186 0.00001
NM_014140.4(SMARCAL1):c.1411A>G (p.Ile471Val) rs770049590 0.00001
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu) rs758367100 0.00001
NM_014140.4(SMARCAL1):c.1465G>A (p.Val489Met) rs745494010 0.00001
NM_014140.4(SMARCAL1):c.1500G>T (p.Trp500Cys) rs1694058553 0.00001
NM_014140.4(SMARCAL1):c.154G>C (p.Gly52Arg) rs768891693 0.00001
NM_014140.4(SMARCAL1):c.1553G>A (p.Arg518His) rs774075396 0.00001
NM_014140.4(SMARCAL1):c.1602G>T (p.Lys534Asn) rs1694060940 0.00001
NM_014140.4(SMARCAL1):c.1622C>A (p.Thr541Asn) rs753062232 0.00001
NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val) rs781453232 0.00001
NM_014140.4(SMARCAL1):c.1642_1644del (p.Ile548del) rs1475737999 0.00001
NM_014140.4(SMARCAL1):c.1688G>A (p.Arg563Gln) rs770947829 0.00001
NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr) rs765026783 0.00001
NM_014140.4(SMARCAL1):c.1750A>G (p.Met584Val) rs1694331950 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.1762G>T (p.Ala588Ser) rs769553029 0.00001
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342 0.00001
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) rs148893764 0.00001
NM_014140.4(SMARCAL1):c.1985T>C (p.Val662Ala) rs749447889 0.00001
NM_014140.4(SMARCAL1):c.221A>G (p.Gln74Arg) rs1441502670 0.00001
NM_014140.4(SMARCAL1):c.2244G>A (p.Lys748=) rs765641883 0.00001
NM_014140.4(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517 0.00001
NM_014140.4(SMARCAL1):c.2266G>A (p.Asp756Asn) rs545627649 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=) rs1322248626 0.00001
NM_014140.4(SMARCAL1):c.2321C>T (p.Ser774Leu) rs149425324 0.00001
NM_014140.4(SMARCAL1):c.2356G>A (p.Ala786Thr) rs763369356 0.00001
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu) rs1346269253 0.00001
NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His) rs1172616375 0.00001
NM_014140.4(SMARCAL1):c.2497G>A (p.Val833Met) rs756015461 0.00001
NM_014140.4(SMARCAL1):c.2529-4A>G rs886042978 0.00001
NM_014140.4(SMARCAL1):c.2554G>A (p.Val852Ile) rs143378530 0.00001
NM_014140.4(SMARCAL1):c.2600C>T (p.Thr867Ile) rs752153044 0.00001
NM_014140.4(SMARCAL1):c.2644A>G (p.Ile882Val) rs752187073 0.00001
NM_014140.4(SMARCAL1):c.2650G>A (p.Asp884Asn) rs763712548 0.00001
NM_014140.4(SMARCAL1):c.2690T>C (p.Met897Thr) rs140370927 0.00001
NM_014140.4(SMARCAL1):c.2764A>G (p.Met922Val) rs767258073 0.00001
NM_014140.4(SMARCAL1):c.2834A>G (p.Asp945Gly) rs1163886519 0.00001
NM_014140.4(SMARCAL1):c.2837A>C (p.Asn946Thr) rs1457757664 0.00001
NM_014140.4(SMARCAL1):c.2852C>T (p.Thr951Met) rs751084968 0.00001
NM_014140.4(SMARCAL1):c.368C>G (p.Ser123Cys) rs1195278398 0.00001
NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu) rs762590281 0.00001
NM_014140.4(SMARCAL1):c.41A>T (p.Glu14Val) rs1693548931 0.00001
NM_014140.4(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697 0.00001
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His) rs774029345 0.00001
NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser) rs1265303129 0.00001
NM_014140.4(SMARCAL1):c.565A>G (p.Lys189Glu) rs754147208 0.00001
NM_014140.4(SMARCAL1):c.59C>G (p.Ala20Gly) rs1386481163 0.00001
NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys) rs753690688 0.00001
NM_014140.4(SMARCAL1):c.68G>A (p.Arg23His) rs866396456 0.00001
NM_014140.4(SMARCAL1):c.709C>A (p.Gln237Lys) rs754790488 0.00001
NM_014140.4(SMARCAL1):c.764A>G (p.Asn255Ser) rs1285863511 0.00001
NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616 0.00001
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=) rs1288231534 0.00001
NM_014140.4(SMARCAL1):c.782T>A (p.Val261Glu) rs754882213 0.00001
NM_014140.4(SMARCAL1):c.884C>T (p.Pro295Leu) rs1297497711 0.00001
NM_014140.4(SMARCAL1):c.887C>T (p.Thr296Met) rs755708465 0.00001
NM_014140.4(SMARCAL1):c.949G>A (p.Glu317Lys) rs1431549731 0.00001
NC_000002.11:g.(?_217279428)_(217347700_?)dup
NC_000002.12:g.(?_216416237)_(216416327_?)del
NM_014140.3(SMARCAL1):c.-262C>G rs567657407
NM_014140.4(SMARCAL1):c.-82T>C rs886055615
NM_014140.4(SMARCAL1):c.1061T>C (p.Ile354Thr)
NM_014140.4(SMARCAL1):c.1064C>A (p.Ala355Glu)
NM_014140.4(SMARCAL1):c.1071T>G (p.Phe357Leu) rs776604578
NM_014140.4(SMARCAL1):c.1076A>G (p.Gln359Arg) rs1213884759
NM_014140.4(SMARCAL1):c.109A>G (p.Ser37Gly) rs2106014375
NM_014140.4(SMARCAL1):c.119C>T (p.Thr40Ile) rs1693551035
NM_014140.4(SMARCAL1):c.1211C>A (p.Ala404Glu)
NM_014140.4(SMARCAL1):c.1211C>T (p.Ala404Val)
NM_014140.4(SMARCAL1):c.1301C>T (p.Ser434Phe)
NM_014140.4(SMARCAL1):c.1325C>G (p.Ala442Gly) rs2106029294
NM_014140.4(SMARCAL1):c.1375G>A (p.Asp459Asn) rs1574456732
NM_014140.4(SMARCAL1):c.1415C>T (p.Ala472Val)
NM_014140.4(SMARCAL1):c.1433A>G (p.Glu478Gly) rs2106033669
NM_014140.4(SMARCAL1):c.1434G>T (p.Glu478Asp)
NM_014140.4(SMARCAL1):c.1442T>C (p.Leu481Pro) rs2106033691
NM_014140.4(SMARCAL1):c.1450G>A (p.Val484Met)
NM_014140.4(SMARCAL1):c.1453G>T (p.Val485Leu) rs1574456834
NM_014140.4(SMARCAL1):c.1475C>T (p.Thr492Ile)
NM_014140.4(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.4(SMARCAL1):c.1488C>T (p.Ala496=) rs1694058200
NM_014140.4(SMARCAL1):c.148A>G (p.Lys50Glu) rs2106014433
NM_014140.4(SMARCAL1):c.1529A>G (p.Asn510Ser) rs772559717
NM_014140.4(SMARCAL1):c.1579G>T (p.Val527Phe)
NM_014140.4(SMARCAL1):c.1594C>T (p.Leu532Phe) rs968239393
NM_014140.4(SMARCAL1):c.1603T>G (p.Leu535Val) rs978339577
NM_014140.4(SMARCAL1):c.1657T>A (p.Phe553Ile) rs866600715
NM_014140.4(SMARCAL1):c.1700C>A (p.Pro567Gln)
NM_014140.4(SMARCAL1):c.1723G>A (p.Val575Met) rs2106050197
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.4(SMARCAL1):c.1762G>C (p.Ala588Pro) rs769553029
NM_014140.4(SMARCAL1):c.176G>C (p.Arg59Thr)
NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg) rs199876834
NM_014140.4(SMARCAL1):c.1784T>G (p.Ile595Ser)
NM_014140.4(SMARCAL1):c.179A>C (p.Glu60Ala) rs766086132
NM_014140.4(SMARCAL1):c.1808C>G (p.Pro603Arg) rs772439671
NM_014140.4(SMARCAL1):c.1828C>G (p.Leu610Val)
NM_014140.4(SMARCAL1):c.1832G>A (p.Arg611His) rs753996369
NM_014140.4(SMARCAL1):c.1847A>G (p.Lys616Arg)
NM_014140.4(SMARCAL1):c.1850G>A (p.Arg617Gln) rs199805996
NM_014140.4(SMARCAL1):c.1851+3A>G
NM_014140.4(SMARCAL1):c.1855C>T (p.Pro619Ser) rs778421852
NM_014140.4(SMARCAL1):c.1860G>C (p.Trp620Cys) rs909012139
NM_014140.4(SMARCAL1):c.1860G>T (p.Trp620Cys)
NM_014140.4(SMARCAL1):c.1869C>G (p.Asp623Glu)
NM_014140.4(SMARCAL1):c.1910T>C (p.Leu637Pro) rs2106055162
NM_014140.4(SMARCAL1):c.1947C>A (p.Asp649Glu) rs2066526
NM_014140.4(SMARCAL1):c.1958A>G (p.Gln653Arg) rs2106055268
NM_014140.4(SMARCAL1):c.1967C>G (p.Ala656Gly)
NM_014140.4(SMARCAL1):c.1982T>G (p.Ile661Arg)
NM_014140.4(SMARCAL1):c.1987G>T (p.Val663Leu)
NM_014140.4(SMARCAL1):c.199C>A (p.His67Asn) rs1693553354
NM_014140.4(SMARCAL1):c.200A>C (p.His67Pro) rs765151021
NM_014140.4(SMARCAL1):c.2014A>G (p.Arg672Gly)
NM_014140.4(SMARCAL1):c.2016G>C (p.Arg672Ser) rs1303862591
NM_014140.4(SMARCAL1):c.2044A>G (p.Lys682Glu)
NM_014140.4(SMARCAL1):c.2045A>G (p.Lys682Arg)
NM_014140.4(SMARCAL1):c.2046G>C (p.Lys682Asn)
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln) rs1694788304
NM_014140.4(SMARCAL1):c.2099T>C (p.Leu700Pro)
NM_014140.4(SMARCAL1):c.209T>G (p.Ile70Ser) rs2106014513
NM_014140.4(SMARCAL1):c.2132_2133delinsTT (p.Pro711Leu) rs2106073109
NM_014140.4(SMARCAL1):c.2157C>G (p.Asp719Glu)
NM_014140.4(SMARCAL1):c.2185T>G (p.Leu729Val)
NM_014140.4(SMARCAL1):c.2201A>G (p.His734Arg) rs886043438
NM_014140.4(SMARCAL1):c.2203A>G (p.Lys735Glu)
NM_014140.4(SMARCAL1):c.2216A>C (p.Asp739Ala)
NM_014140.4(SMARCAL1):c.2221A>G (p.Ile741Val)
NM_014140.4(SMARCAL1):c.2243A>T (p.Lys748Met) rs369634860
NM_014140.4(SMARCAL1):c.2244+17A>G rs2106077346
NM_014140.4(SMARCAL1):c.2245C>T (p.His749Tyr) rs764751292
NM_014140.4(SMARCAL1):c.2248G>A (p.Val750Met) rs763200185
NM_014140.4(SMARCAL1):c.2260C>G (p.Arg754Gly)
NM_014140.4(SMARCAL1):c.2261G>A (p.Arg754His)
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=) rs1301876154
NM_014140.4(SMARCAL1):c.2306A>G (p.Gln769Arg)
NM_014140.4(SMARCAL1):c.2309A>G (p.Gln770Arg)
NM_014140.4(SMARCAL1):c.2320T>C (p.Ser774Pro)
NM_014140.4(SMARCAL1):c.2332G>A (p.Ala778Thr) rs746945317
NM_014140.4(SMARCAL1):c.2333C>A (p.Ala778Asp)
NM_014140.4(SMARCAL1):c.2333C>G (p.Ala778Gly)
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met) rs745349150
NM_014140.4(SMARCAL1):c.2350A>G (p.Ile784Val)
NM_014140.4(SMARCAL1):c.2425G>A (p.Gly809Arg) rs1695052762
NM_014140.4(SMARCAL1):c.2449C>T (p.Arg817Cys)
NM_014140.4(SMARCAL1):c.251A>G (p.Gln84Arg) rs1384951552
NM_014140.4(SMARCAL1):c.2527T>C (p.Trp843Arg) rs1323958612
NM_014140.4(SMARCAL1):c.2528+6G>C
NM_014140.4(SMARCAL1):c.2569G>A (p.Gly857Arg)
NM_014140.4(SMARCAL1):c.2589T>G (p.Phe863Leu) rs759400963
NM_014140.4(SMARCAL1):c.2599A>T (p.Thr867Ser)
NM_014140.4(SMARCAL1):c.25C>G (p.Gln9Glu)
NM_014140.4(SMARCAL1):c.2625+1G>T rs2106089962
NM_014140.4(SMARCAL1):c.2626-1G>T rs2106094746
NM_014140.4(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter) rs1559140275
NM_014140.4(SMARCAL1):c.2662_2664del (p.Lys888del) rs1460396872
NM_014140.4(SMARCAL1):c.2687A>C (p.Asp896Ala)
NM_014140.4(SMARCAL1):c.2692G>A (p.Glu898Lys)
NM_014140.4(SMARCAL1):c.2699T>C (p.Leu900Pro)
NM_014140.4(SMARCAL1):c.2738G>A (p.Gly913Glu) rs1695230816
NM_014140.4(SMARCAL1):c.2768G>A (p.Gly923Glu) rs1559140332
NM_014140.4(SMARCAL1):c.2782G>A (p.Glu928Lys)
NM_014140.4(SMARCAL1):c.2803C>G (p.Pro935Ala)
NM_014140.4(SMARCAL1):c.2810A>G (p.Lys937Arg) rs375276319
NM_014140.4(SMARCAL1):c.2823del (p.Phe941fs) rs774004064
NM_014140.4(SMARCAL1):c.2832dup (p.Asp945Ter)
NM_014140.4(SMARCAL1):c.2849T>G (p.Phe950Cys) rs1168400155
NM_014140.4(SMARCAL1):c.29G>T (p.Arg10Met)
NM_014140.4(SMARCAL1):c.313C>T (p.Pro105Ser)
NM_014140.4(SMARCAL1):c.314C>T (p.Pro105Leu)
NM_014140.4(SMARCAL1):c.319G>A (p.Ala107Thr)
NM_014140.4(SMARCAL1):c.322T>C (p.Cys108Arg)
NM_014140.4(SMARCAL1):c.325C>T (p.Pro109Ser)
NM_014140.4(SMARCAL1):c.364A>G (p.Ile122Val) rs1693557419
NM_014140.4(SMARCAL1):c.370C>T (p.Pro124Ser)
NM_014140.4(SMARCAL1):c.378G>A (p.Leu126=) rs2106014724
NM_014140.4(SMARCAL1):c.403A>G (p.Lys135Glu)
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys) rs1296535575
NM_014140.4(SMARCAL1):c.424G>A (p.Glu142Lys) rs756864375
NM_014140.4(SMARCAL1):c.426G>C (p.Glu142Asp) rs767158204
NM_014140.4(SMARCAL1):c.443C>T (p.Ala148Val)
NM_014140.4(SMARCAL1):c.454C>T (p.Pro152Ser) rs1384608239
NM_014140.4(SMARCAL1):c.508C>T (p.Pro170Ser)
NM_014140.4(SMARCAL1):c.50G>A (p.Arg17Gln)
NM_014140.4(SMARCAL1):c.521A>G (p.Gln174Arg)
NM_014140.4(SMARCAL1):c.527C>T (p.Thr176Ile)
NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser) rs1693565636
NM_014140.4(SMARCAL1):c.545G>T (p.Gly182Val)
NM_014140.4(SMARCAL1):c.596C>A (p.Pro199His)
NM_014140.4(SMARCAL1):c.5C>T (p.Ser2Phe) rs771595818
NM_014140.4(SMARCAL1):c.629G>T (p.Ser210Ile) rs760336986
NM_014140.4(SMARCAL1):c.638G>T (p.Ser213Ile)
NM_014140.4(SMARCAL1):c.644C>T (p.Thr215Met)
NM_014140.4(SMARCAL1):c.662G>T (p.Arg221Ile)
NM_014140.4(SMARCAL1):c.668A>C (p.Gln223Pro) rs1316299314
NM_014140.4(SMARCAL1):c.674A>G (p.Lys225Arg) rs1378058989
NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu) rs1693572522
NM_014140.4(SMARCAL1):c.68G>C (p.Arg23Pro)
NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His) rs985760536
NM_014140.4(SMARCAL1):c.701T>G (p.Val234Gly) rs1184288846
NM_014140.4(SMARCAL1):c.705C>A (p.Asn235Lys)
NM_014140.4(SMARCAL1):c.714G>C (p.Lys238Asn) rs2106015223
NM_014140.4(SMARCAL1):c.724G>T (p.Val242Leu) rs375140716
NM_014140.4(SMARCAL1):c.734G>A (p.Gly245Asp) rs1574443795
NM_014140.4(SMARCAL1):c.746A>G (p.Gln249Arg)
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu) rs1693575449
NM_014140.4(SMARCAL1):c.755T>C (p.Ile252Thr) rs1693575527
NM_014140.4(SMARCAL1):c.761A>C (p.Tyr254Ser) rs368040473
NM_014140.4(SMARCAL1):c.761A>G (p.Tyr254Cys)
NM_014140.4(SMARCAL1):c.763A>G (p.Asn255Asp) rs2106015300
NM_014140.4(SMARCAL1):c.804G>C (p.Lys268Asn)
NM_014140.4(SMARCAL1):c.811+6G>A rs1269883110
NM_014140.4(SMARCAL1):c.841A>G (p.Met281Val) rs1382103008
NM_014140.4(SMARCAL1):c.863-4G>T rs1693689203
NM_014140.4(SMARCAL1):c.895C>A (p.Leu299Met) rs2106020536
NM_014140.4(SMARCAL1):c.89C>T (p.Ala30Val)
NM_014140.4(SMARCAL1):c.912G>T (p.Trp304Cys)
NM_014140.4(SMARCAL1):c.922A>G (p.Ser308Gly) rs1312214950
NM_014140.4(SMARCAL1):c.92A>G (p.Glu31Gly) rs1237615679
NM_014140.4(SMARCAL1):c.934C>G (p.Pro312Ala)
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288
NM_014140.4(SMARCAL1):c.989T>A (p.Phe330Tyr)

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