List of variants reported as likely benign for Schimke immuno-osseous dysplasia

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Total variants: 47

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HGVS	dbSNP
NM_014140.3(SMARCAL1):c.*30T>G	rs186052380
NM_014140.3(SMARCAL1):c.-137A>G	rs115172989
NM_014140.3(SMARCAL1):c.-200G>A	rs79352134
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.1271A>T (p.Asp424Val)	rs2066520
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.1732T>C (p.Leu578=)	rs370667576
NM_014140.3(SMARCAL1):c.1851+5G>A	rs2066514
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=)	rs151241914
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=)	rs2271335
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.2427+9C>T	rs201601053
NM_014140.3(SMARCAL1):c.2528+5G>C	rs145908212
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln)	rs190386780
NM_014140.3(SMARCAL1):c.2712G>A (p.Glu904=)	rs150767214
NM_014140.3(SMARCAL1):c.863-9C>G	rs188833040
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=)	rs139949668
NM_014140.3(SMARCAL1):c.962G>A (p.Gly321Asp)	rs148752234
NM_014140.4(SMARCAL1):c.1147+8G>A	rs759562755
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=)	rs565316605
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.1440G>A (p.Pro480=)	rs367557310
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=)	rs751122020
NM_014140.4(SMARCAL1):c.1486-6C>T	rs1390292771
NM_014140.4(SMARCAL1):c.1645-10T>C	rs780292291
NM_014140.4(SMARCAL1):c.1701G>A (p.Pro567=)	rs763289234
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.1948G>A (p.Val650Ile)	rs200734842
NM_014140.4(SMARCAL1):c.2247C>T (p.His749=)	rs775975242
NM_014140.4(SMARCAL1):c.2364T>C (p.Asn788=)	rs2066517
NM_014140.4(SMARCAL1):c.2496C>T (p.Leu832=)	rs750345128
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=)	rs747379387
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=)	rs763888223
NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=)	rs1574443312
NM_014140.4(SMARCAL1):c.69C>G (p.Arg23=)	rs1574442911
NM_014140.4(SMARCAL1):c.726A>T (p.Val242=)	rs146658939

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