ClinVar Miner

List of variants studied for Schimke immuno-osseous dysplasia

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ClinVar version:
Total variants: 184
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HGVS dbSNP
NC_000002.12:g.(?_216414695)_(216416317_?)del
NC_000002.12:g.(?_216416237)_(216416327_?)del
NC_000002.12:g.216412428T>C
NC_000002.12:g.216412444G>C
NC_000002.12:g.216412482C>G
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001127207.2(SMARCAL1):c.268_269CA[1] (p.His90fs) rs1574443133
NM_014140.3(SMARCAL1):c.*13G>T rs760333596
NM_014140.3(SMARCAL1):c.*30T>G rs186052380
NM_014140.3(SMARCAL1):c.-114G>A rs561221026
NM_014140.3(SMARCAL1):c.-137A>G rs115172989
NM_014140.3(SMARCAL1):c.-141G>A rs542884297
NM_014140.3(SMARCAL1):c.-164G>A rs767342189
NM_014140.3(SMARCAL1):c.-170C>T rs886055614
NM_014140.3(SMARCAL1):c.-200G>A rs79352134
NM_014140.3(SMARCAL1):c.-218C>T rs3755141
NM_014140.3(SMARCAL1):c.-48C>A rs576450027
NM_014140.3(SMARCAL1):c.-82T>C rs886055615
NM_014140.3(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228
NM_014140.3(SMARCAL1):c.100C>T (p.Gln34Ter) rs119473035
NM_014140.3(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120
NM_014140.3(SMARCAL1):c.1064C>T (p.Ala355Val) rs772913825
NM_014140.3(SMARCAL1):c.1069T>A (p.Phe357Ile) rs369180164
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518
NM_014140.3(SMARCAL1):c.1132G>T (p.Glu378Ter) rs864309531
NM_014140.3(SMARCAL1):c.1190del (p.Leu397fs) rs766291662
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089
NM_014140.3(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525
NM_014140.3(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916
NM_014140.3(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520
NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524
NM_014140.3(SMARCAL1):c.1297G>A (p.Val433Met) rs374696042
NM_014140.3(SMARCAL1):c.1317T>G (p.Phe439Leu) rs771757954
NM_014140.3(SMARCAL1):c.1375G>A (p.Asp459Asn) rs1574456732
NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162
NM_014140.3(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192
NM_014140.3(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324
NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819
NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846
NM_014140.3(SMARCAL1):c.1453G>T (p.Val485Leu) rs1574456834
NM_014140.3(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.3(SMARCAL1):c.1553G>A (p.Arg518His) rs774075396
NM_014140.3(SMARCAL1):c.1594C>T (p.Leu532Phe) rs968239393
NM_014140.3(SMARCAL1):c.1643T>A (p.Ile548Asn) rs119473036
NM_014140.3(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354
NM_014140.3(SMARCAL1):c.1732T>C (p.Leu578=) rs370667576
NM_014140.3(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038
NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.3(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109
NM_014140.3(SMARCAL1):c.179A>C (p.Glu60Ala) rs766086132
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys) rs119473037
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.3(SMARCAL1):c.1993G>T (p.Ala665Ser) rs768868466
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914
NM_014140.3(SMARCAL1):c.2009A>G (p.Asn670Ser) rs752621052
NM_014140.3(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381
NM_014140.3(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077
NM_014140.3(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335
NM_014140.3(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517
NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035
NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln) rs267607071
NM_014140.3(SMARCAL1):c.2321C>A (p.Ser774Ter) rs149425324
NM_014140.3(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683
NM_014140.3(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758
NM_014140.3(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534
NM_014140.3(SMARCAL1):c.2427+9C>T rs201601053
NM_014140.3(SMARCAL1):c.2497G>A (p.Val833Met) rs756015461
NM_014140.3(SMARCAL1):c.2528+15G>A rs200879397
NM_014140.3(SMARCAL1):c.2528+5G>C rs145908212
NM_014140.3(SMARCAL1):c.2570G>A (p.Gly857Glu) rs1553535161
NM_014140.3(SMARCAL1):c.2600C>T (p.Thr867Ile) rs752153044
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780
NM_014140.3(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter) rs1559140275
NM_014140.3(SMARCAL1):c.2712G>A (p.Glu904=) rs150767214
NM_014140.3(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564
NM_014140.3(SMARCAL1):c.2765T>C (p.Met922Thr) rs200431186
NM_014140.3(SMARCAL1):c.2768G>A (p.Gly923Glu) rs1559140332
NM_014140.3(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.3(SMARCAL1):c.341G>A (p.Arg114His) rs11555797
NM_014140.3(SMARCAL1):c.415_416del (p.Leu139fs) rs781023326
NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255
NM_014140.3(SMARCAL1):c.488C>A (p.Thr163Asn) rs748188404
NM_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034
NM_014140.3(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697
NM_014140.3(SMARCAL1):c.565A>G (p.Lys189Glu) rs754147208
NM_014140.3(SMARCAL1):c.600G>A (p.Ser200=) rs530505647
NM_014140.3(SMARCAL1):c.603G>C (p.Gly201=) rs35048226
NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=) rs199805770
NM_014140.3(SMARCAL1):c.734G>A (p.Gly245Asp) rs1574443795
NM_014140.3(SMARCAL1):c.735C>T (p.Gly245=) rs149510554
NM_014140.3(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616
NM_014140.3(SMARCAL1):c.776T>C (p.Ile259Thr) rs750671325
NM_014140.3(SMARCAL1):c.812-15T>C rs375588610
NM_014140.3(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827
NM_014140.3(SMARCAL1):c.863-2A>G rs761546902
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305
NM_014140.3(SMARCAL1):c.922A>G (p.Ser308Gly) rs1312214950
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=) rs139949668
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014140.3(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly)
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His)
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) rs565316605
NM_014140.4(SMARCAL1):c.1210del (p.Ala404fs)
NM_014140.4(SMARCAL1):c.1248dup (p.Thr417fs) rs535448005
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) rs151159565
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186
NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro)
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu)
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) rs367557310
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=) rs751122020
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His)
NM_014140.4(SMARCAL1):c.1486-6C>T rs1390292771
NM_014140.4(SMARCAL1):c.1503del (p.Pro502fs)
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) rs35087810
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys)
NM_014140.4(SMARCAL1):c.1622C>A (p.Thr541Asn)
NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val)
NM_014140.4(SMARCAL1):c.1644+1G>T
NM_014140.4(SMARCAL1):c.1645-10T>C rs780292291
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter)
NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr)
NM_014140.4(SMARCAL1):c.1701G>A (p.Pro567=) rs763289234
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654
NM_014140.4(SMARCAL1):c.1863G>A (p.Gly621=) rs777370537
NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=) rs1360338749
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=) rs375844575
NM_014140.4(SMARCAL1):c.1934_1935del (p.Arg645fs)
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln)
NM_014140.4(SMARCAL1):c.2141+1G>A
NM_014140.4(SMARCAL1):c.2243A>T (p.Lys748Met)
NM_014140.4(SMARCAL1):c.2247C>T (p.His749=) rs775975242
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val)
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=)
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=)
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met)
NM_014140.4(SMARCAL1):c.2364T>C (p.Asn788=) rs2066517
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu)
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn)
NM_014140.4(SMARCAL1):c.2425G>A (p.Gly809Arg)
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300
NM_014140.4(SMARCAL1):c.2496C>T (p.Leu832=) rs750345128
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs)
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=) rs747379387
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln)
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) rs763888223
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350
NM_014140.4(SMARCAL1):c.334_340dup (p.Arg114fs)
NM_014140.4(SMARCAL1):c.364A>G (p.Ile122Val)
NM_014140.4(SMARCAL1):c.365_366TC[2] (p.Pro124fs) rs1574443257
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro)
NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=) rs1574443312
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys)
NM_014140.4(SMARCAL1):c.445C>T (p.Gln149Ter)
NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser)
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His)
NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu)
NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys)
NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His)
NM_014140.4(SMARCAL1):c.69C>G (p.Arg23=) rs1574442911
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile)
NM_014140.4(SMARCAL1):c.726A>T (p.Val242=) rs146658939
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu)
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val)
NM_014140.4(SMARCAL1):c.786dup (p.Lys263Ter)
NM_014140.4(SMARCAL1):c.863-4G>T
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr)
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
SMARCAL1, 4-BP DEL, 1146AAGT

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